EIEE6
MCID: EPL184
MIFTS: 69

Epileptic Encephalopathy, Early Infantile, 6 (EIEE6)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 6

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 6:

Name: Epileptic Encephalopathy, Early Infantile, 6 56 73 37
Dravet Syndrome 56 12 74 52 53 58 73 36 13 54 15
Severe Myoclonic Epilepsy of Infancy 56 52 53 58
Smei 56 52 58 73
Severe Myoclonic Epilepsy in Infancy 73 29 6
Dravet Syndrome, Modifier of 56 29
Eiee6 56 73
Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures 71
Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 73
Encephalopathy, Epileptic, Early Infantile, Type 6 39
Severe Myoclonic Epilepsy of Infancy; Smei 56
Early Infantile Epileptic Encephalopathy 6 12
Myoclonic Epilepsy, Severe, of Infancy 52
Smei-Borderland More Than One Feature 73
Severe Myoclonus Epilepsy of Infancy 58
Infantile Severe Myoclonic Epilepsy 71
Smei-Borderland-Myoclonic Seizures 73
Smei-Borderland-Spike Wave 73
Borderline Smei 73
Smei-Borderland 73
Smeb-Sw 73
Smeb-M 73
Smeb-O 73
Icegtc 73
Smeb 73
Sme 52
Ds 58

Characteristics:

Orphanet epidemiological data:

58
dravet syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in first year of life
most mutations occur de novo
marked phenotypic variability
psychomotor delay may already be apparent at onset of seizures
may be induced by fever or hot bath
often refractory to medical therapy
may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, )


HPO:

31
epileptic encephalopathy, early infantile, 6:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080422
OMIM 56 607208
OMIM Phenotypic Series 56 PS308350
KEGG 36 H01818
MeSH 43 D004831
ICD10 via Orphanet 33 G40.4
UMLS via Orphanet 72 C0751122
Orphanet 58 ORPHA33069
UMLS 71 C0751122 C3501832

Summaries for Epileptic Encephalopathy, Early Infantile, 6

NINDS : 53 Dravet syndrome, previously called severe myoclonic epilepsy of infancy (SMEI), is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe. Children with Dravet syndrome initially show focal (confined to one area) or generalized (throughout the brain) convulsive seizures that start before 15 months of age (often before age one). These initial seizures are often prolonged and involve half of the body, with subsequent seizures that may switch to the other side of the body. These initial seizures are frequently provoked by seizures or exposure to increased temperatures or temperature changes, such as getting out of a bath. Other seizure types emerge after 12 months of age and can be quite varied. Status epilepticus – a state of continuous seizure requiring emergency medical care – may occur frequently in these children, particularly in the first five years of life. Children with Dravet syndrome typically have normal development in the first fews years of life. As seizures increase, the pace of acquiring skills slows and children start to lag in development behind their peers. Other symptoms can begin throughout childhood with changes in eating, appetitie, balance, and a crouched gait (walking). In at least 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Mutations in the SCN1A gene (a gene that encodes as a sodium channel, a part of the cell membrane involved in nervous system function) are the primary causes of Dravet syndrome. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) but which is much less severe, are caused by defects in the same gene. Dravet syndrome is a lifelong condition.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 6, also known as dravet syndrome, is related to genetic epilepsy with febrile seizures plus and febrile seizures, and has symptoms including ataxia, myoclonic seizures and absence seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 6 is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Dopaminergic synapse and Developmental Biology. The drugs Ethanol and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, and related phenotypes are generalized myoclonic seizures and eeg abnormality

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SCN1A gene on chromosome 2q24.

NIH Rare Diseases : 52 Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as SCN1A-related seizure disorders . The condition appears during the first year of life as frequent fever-related (febrile) seizures . As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus . A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. Around 85% of Dravet syndrome cases are due to a mutation in the SCN1A gene , which is required for the proper function of brain cells . In about 10% of cases the cause is unknown but other genes are likely the cause. The main goal of treatment is to reduce seizures frequency and prevent status epilepticus. Moderate to severe cognitive impairment and intractable epilepsy into adulthood is common.

OMIM : 56 Dravet syndrome, first described by Dravet (1978), is a clinical term for early-onset epileptic encephalopathy (EIEE) characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Seizures are usually refractory to treatment. Later, patients also manifest other seizure types, including absence, myoclonic, and partial seizures. The EEG is often normal at first, but later characteristically shows generalized spike-wave activity. Psychomotor development stagnates around the second year of life, and affected individuals show subsequent mental decline and other neurologic manifestations (summary by Harkin et al., 2007). Since mutation in the SCN1A gene can also cause the less severe disorder autosomal dominant generalized epilepsy with febrile seizures-plus, Dravet syndrome and migrating partial seizures of infancy (MPSI) are considered to be the most severe phenotypes within the spectrum of SCN1A-related epilepsies (Ohmori et al., 2002; Carranza Rojo et al., 2011). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. For a general phenotypic description and a discussion of genetic heterogeneity of early infantile epileptic encephalopathy, see EIEE1 (308350). (607208)

KEGG : 36 The Dravet syndrome is a rare form of epileptic encephalopathy, and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. Patients typically present with febrile hemiclonic or generalised tonic-clonic status epilepticus, followed by the development of other seizure types including myoclonic, focal, absence and atonic seizures between 1-4 years. All seizure types are pharmacoresistent, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 years. Development is normal in the first year of life with subsequent developmental slowing and sometimes regression. Approximately 80% of patients have point mutations or small insertions or deletions in the SCN1A gene.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 6: A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus.
Intractable childhood epilepsy with generalized tonic-clonic seizures: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures.

Wikipedia : 74 Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is a type of epilepsy... more...

Related Diseases for Epileptic Encephalopathy, Early Infantile, 6

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
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Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 181, show less)
# Related Disease Score Top Affiliating Genes
1 genetic epilepsy with febrile seizures plus 34.0 SCN9A SCN2A SCN1A
2 febrile seizures 33.5 SCN9A SCN2A SCN1B SCN1A GABRG2 GABRD
3 seizure disorder 32.4 SCN2A SCN1A KCNQ2 CDKL5
4 visual epilepsy 32.3 STXBP1 SCN2A SCN1B SCN1A KCNQ2 GABRG2
5 encephalopathy 32.3 STXBP1 SCN1A PCDH19 CDKL5
6 status epilepticus 32.2 SCN1A PVALB PCDH19 KCNQ2
7 scn1a seizure disorders 32.1 SCN9A SCN1B SCN1A
8 myoclonic epilepsy of infancy 32.0 SCN8A SCN1A GABRG2
9 early myoclonic encephalopathy 31.8 STXBP1 SCN8A SCN3A SCN2A SCN1B SCN1A
10 epilepsy 31.6 STXBP1 SNX27 SCN9A SCN8A SCN3A SCN2A
11 epilepsy with generalized tonic-clonic seizures 31.4 SCN2A SCN1B SCN1A GABRG2
12 autism spectrum disorder 31.3 SCN2A SCN1A PCDH19 GABRG2 GABRD GABRB3
13 generalized epilepsy with febrile seizures plus 31.2 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
14 autism 31.1 SCN8A SCN3A SCN2A SCN1A PCDH19 PCDH10
15 lennox-gastaut syndrome 31.0 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
16 epileptic encephalopathy, childhood-onset 30.9 PCDH19 KCNQ2 GABRA1
17 seizures, benign familial infantile, 3 30.8 SCN2A KCNQ2
18 focal epilepsy 30.8 SCN8A SCN3A SCN2A SCN1B SCN1A PVALB
19 brugada syndrome 30.8 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
20 photosensitive epilepsy 30.8 SCN1A PCDH19 KCNQ3 KCNQ2 GABRG2 GABRD
21 epileptic encephalopathy, early infantile, 9 30.8 STXBP1 SCN2A SCN1A PCDH19 PCDH10 KCNT1
22 migraine with or without aura 1 30.7 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ3
23 pervasive developmental disorder 30.7 STXBP1 SCN2A SCN1A PVALB PCDH19 PCDH10
24 west syndrome 30.6 STXBP1 SCN8A SCN3A SCN2A SCN1B SCN1A
25 early infantile epileptic encephalopathy 30.6 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
26 benign neonatal seizures 30.5 STXBP1 SCN2A SCN1B SCN1A PCDH19 PCDH10
27 epilepsy, idiopathic generalized 30.4 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
28 electroclinical syndrome 30.3 STXBP1 SCN8A SCN3A SCN2A SCN1B SCN1A
29 childhood absence epilepsy 30.2 STXBP1 SCN8A SCN3A SCN2A SCN1B SCN1A
30 scn1a-related seizure disorders 11.6
31 generalized epilepsy with febrile seizures plus, type 2 11.5
32 familial febrile seizures 10.7 SCN9A SCN1A GABRG2
33 progressive familial heart block, type ia 10.7 SCN9A SCN8A SCN3A SCN1A
34 neuropathy, hereditary sensory and autonomic, type vii 10.7 SCN3A SCN2A SCN1A
35 epileptic encephalopathy, early infantile, 13 10.7 SCN8A SCN1B SCN1A
36 febrile infection-related epilepsy syndrome 10.7 SCN1A PCDH19
37 low-grade astrocytoma 10.7 SCN8A SCN3A SCN2A SCN1A
38 malignant migrating partial seizures of infancy 10.7 SCN2A SCN1A KCNT1
39 erythromelalgia 10.7 SCN9A SCN8A SCN3A SCN1A
40 epilepsy, familial temporal lobe, 5 10.7 SCN9A SCN1B SCN1A GABRG2 GABRD
41 juvenile absence epilepsy 10.7 SCN1A GABRG2 GABRB3 GABRA1
42 paine syndrome 10.7 SCN9A SCN8A SCN3A SCN1A
43 epileptic encephalopathy, early infantile, 1 10.7 SCN1A KCNQ2 GABRB3
44 somatoform disorder 10.7 SCN9A SCN8A SCN3A SCN1A
45 trigeminal nerve disease 10.7 SCN9A SCN8A SCN3A
46 partial motor epilepsy 10.7 STXBP1 SCN2A SCN1A KCNT1 KCNQ2
47 trigeminal neuralgia 10.7 SCN9A SCN8A SCN3A
48 undetermined early-onset epileptic encephalopathy 10.7 STXBP1 SCN8A SCN3A GABRG2
49 hereditary episodic ataxia 10.7 SCN2A KCNA1
50 unverricht-lundborg syndrome 10.7 SCN1B KCNQ3 GABRG2
51 verbal auditory agnosia 10.7 SCN1B GABRG2
52 ohtahara syndrome 10.7 STXBP1 SCN2A
53 kcnq2-related disorders 10.7 KCNQ3 KCNQ2
54 epileptic encephalopathy, early infantile, 7 10.7 STXBP1 SCN8A KCNT1 KCNQ3 KCNQ2
55 episodic kinesigenic dyskinesia 1 10.7 KCNQ2 KCNA1 GABRA1
56 generalized epilepsy with febrile seizures plus, type 1 10.7 SCN1B SCN1A
57 epilepsy, nocturnal frontal lobe, 1 10.7 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
58 episodic ataxia, type 1 10.7 KCNQ3 KCNQ2 KCNA1
59 seizures, benign familial infantile, 5 10.7 SCN8A KCNQ3
60 seizures, benign familial neonatal, 2 10.6 KCNQ3 KCNQ2
61 episodic ataxia 10.6 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 KCNA1
62 early onset absence epilepsy 10.6 SCN2A SCN1B SCN1A KCNQ3 KCNQ2 GABRG2
63 angelman syndrome 10.6 GABRG2 GABRB3 GABRA1 CDKL5
64 landau-kleffner syndrome 10.6 STXBP1 SCN8A SCN2A SCN1A PCDH19 PCDH10
65 paroxysmal dyskinesia 10.6 SCN8A PCDH19
66 reflex epilepsy 10.6 SCN1A GABRG2
67 hyperekplexia 10.6 GABRG2 GABRB3 GABRA1
68 epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta 10.6 SCN8A SCN1A
69 benign familial neonatal epilepsy 10.6 STXBP1 SCN2A SCN1A PCDH19 PCDH10 KCNQ3
70 alacrima, achalasia, and mental retardation syndrome 10.6
71 adolescence-adult electroclinical syndrome 10.6 SCN2A SCN1B SCN1A PCDH19 KCNQ3 KCNQ2
72 long qt syndrome 10.6 SCN8A SCN1B KCNQ3 KCNQ2
73 rett syndrome 10.6 STXBP1 SCN1A GABRB3 CDKL5
74 spinocerebellar ataxia 27 10.6 SCN8A SCN1A
75 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.6 KCNQ3 KCNQ2
76 infancy electroclinical syndrome 10.5 STXBP1 SCN8A SCN2A SCN1B SCN1A PCDH19
77 ataxia and polyneuropathy, adult-onset 10.5
78 coffin-siris syndrome 4 10.5 SCN8A SCN2A
79 benign familial infantile epilepsy 10.5 STXBP1 SCN8A SCN3A SCN2A SCN1B SCN1A
80 autosomal dominant nocturnal frontal lobe epilepsy 10.4 STXBP1 SCN8A SCN2A SCN1B SCN1A PCDH19
81 aicardi syndrome 10.4 PCDH19 CDKL5
82 epilepsy, myoclonic juvenile 10.4 STXBP1 SCN2A SCN1B SCN1A PCDH19 PCDH10
83 benign epilepsy with centrotemporal spikes 10.4 STXBP1 SCN9A SCN2A SCN1B SCN1A PCDH19
84 amyotrophic lateral sclerosis 1 10.4 STXBP1 SCN8A PVALB KCNT1 KCNQ2 CDKL5
85 myoclonus 10.4
86 childhood electroclinical syndrome 10.4 STXBP1 SCN8A SCN2A SCN1B SCN1A PVALB
87 autoimmune lymphoproliferative syndrome 10.3
88 dianzani autoimmune lymphoproliferative disease 10.3
89 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
90 lymphoproliferative syndrome 10.3
91 dysgammaglobulinemia 10.3
92 neutropenia 10.3
93 linear iga disease 10.3
94 long qt syndrome 1 10.3 SCN1B KCNQ3 KCNQ2
95 neonatal period electroclinical syndrome 10.3 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
96 pertussis 10.2
97 temporal lobe epilepsy 10.2 SCN1B SCN1A PVALB
98 ocular motor apraxia 10.1
99 epileptic encephalopathy, early infantile, 52 10.1
100 pulmonary hypertension 10.1
101 heart valve disease 10.1
102 autonomic dysfunction 10.1
103 tremor 10.1
104 rare genetic epilepsy 10.1
105 rare epilepsy 10.1
106 hyperinsulinism 10.0
107 precocious puberty 10.0
108 central precocious puberty 10.0
109 poliomyelitis 10.0
110 chickenpox 10.0
111 bacterial meningitis 10.0
112 meningitis 10.0
113 cardiac arrhythmia 10.0
114 attention deficit-hyperactivity disorder 10.0
115 pulmonary hypertension, primary, 1 10.0
116 neutropenia, severe congenital, 1, autosomal dominant 10.0
117 microcephaly 10.0
118 personality disorder 10.0
119 brain edema 10.0
120 movement disease 10.0
121 sleep disorder 10.0
122 dystonia 10.0
123 learning disability 10.0
124 chd2-related neurodevelopmental disorders 10.0
125 scn8a-related epilepsy with encephalopathy 10.0
126 epilepsy with myoclonic-atonic seizures 10.0
127 hypotonia 10.0
128 infantile epilepsy syndrome 10.0
129 alzheimer disease 9.9
130 external auditory canal, bilateral atresia of, with congenital vertical talus 9.9
131 fibrosis of extraocular muscles, congenital, 1 9.9
132 tuberous sclerosis 1 9.9
133 cystic fibrosis 9.9
134 ventricular fibrillation, paroxysmal familial, 1 9.9
135 resting heart rate, variation in 9.9
136 cortical dysplasia, complex, with other brain malformations 7 9.9
137 epileptic encephalopathy, early infantile, 4 9.9
138 beta-ureidopropionase deficiency 9.9
139 generalized epilepsy with febrile seizures plus, type 7 9.9
140 leukemia, acute lymphoblastic 3 9.9
141 epileptic encephalopathy, early infantile, 19 9.9
142 hydrops, lactic acidosis, and sideroblastic anemia 9.9
143 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.9
144 speech and communication disorders 9.9
145 asperger syndrome 9.9
146 spinocerebellar ataxia type 19/22 9.9
147 familial hemiplegic migraine 9.9
148 mumps 9.9
149 nasopharyngitis 9.9
150 hemiplegia 9.9
151 respiratory failure 9.9
152 diarrhea 9.9
153 tuberous sclerosis 9.9
154 autosomal dominant cerebellar ataxia 9.9
155 avoidant personality disorder 9.9
156 plague 9.9
157 mitochondrial metabolism disease 9.9
158 measles 9.9
159 neuropathy 9.9
160 rubella 9.9
161 progressive myoclonus epilepsy 9.9
162 hypoglycemia 9.9
163 47,xyy 9.9
164 mitochondrial disorders 9.9
165 scn9a-related inherited erythromelalgia 9.9
166 stxbp1 encephalopathy with epilepsy 9.9
167 tbc1d24-related disorders 9.9
168 hemiplegic migraine 9.9
169 myoclonus epilepsy 9.9
170 rasmussen johnsen thomsen syndrome 9.9
171 cerebral atrophy 9.9
172 dysphagia 9.9
173 spasticity 9.9
174 myoclonic-astastic epilepsy 9.9
175 x-linked intellectual disability-epilepsy syndrome 9.9
176 acute encephalopathy with biphasic seizures and late reduced diffusion 9.9
177 rasmussen subacute encephalitis 9.9
178 cerebral visual impairment 9.9
179 rare surgical neurologic disease 9.9
180 childhood-onset epilepsy syndrome 9.9
181 benign childhood occipital epilepsy, panayiotopoulos type 9.9

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 6:



Diseases related to Epileptic Encephalopathy, Early Infantile, 6

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 6

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 6:

58 31 (showing 65, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized myoclonic seizures 58 31 hallmark (90%) Frequent (79-30%) HP:0002123
2 eeg abnormality 31 hallmark (90%) HP:0002353
3 ataxia 31 hallmark (90%) HP:0001251
4 cutaneous photosensitivity 31 hallmark (90%) HP:0000992
5 neurodevelopmental delay 31 hallmark (90%) HP:0012758
6 psychomotor retardation 31 hallmark (90%) HP:0025356
7 focal clonic seizures 31 hallmark (90%) HP:0002266
8 febrile seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002373
9 tremor 31 frequent (33%) HP:0001337
10 muscular hypotonia 31 frequent (33%) HP:0001252
11 obtundation status 31 frequent (33%) HP:0011151
12 focal impaired awareness seizure 58 31 occasional (7.5%) Frequent (79-30%) HP:0002384
13 generalized tonic-clonic seizures with focal onset 31 occasional (7.5%) HP:0007334
14 hemiclonic seizures 58 31 Frequent (79-30%) HP:0006813
15 developmental regression 58 Very frequent (99-80%)
16 global developmental delay 31 HP:0001263
17 pes planus 58 Occasional (29-5%)
18 cognitive impairment 58 Frequent (79-30%)
19 myoclonus 58 Frequent (79-30%)
20 pallor 58 Occasional (29-5%)
21 anxiety 58 Frequent (79-30%)
22 poor fine motor coordination 58 Occasional (29-5%)
23 motor delay 31 HP:0001270
24 rigidity 58 Frequent (79-30%)
25 infantile muscular hypotonia 58 Occasional (29-5%)
26 generalized tonic seizures 58 Very rare (<4-1%)
27 epileptic encephalopathy 31 HP:0200134
28 absence seizure 31 HP:0002121
29 photosensitive tonic-clonic seizures 58 Frequent (79-30%)
30 status epilepticus 31 HP:0002133
31 mental deterioration 31 HP:0001268
32 atypical absence seizure 58 Frequent (79-30%)
33 focal-onset seizure 58 Very frequent (99-80%)
34 autistic behavior 58 Frequent (79-30%)
35 short attention span 58 Occasional (29-5%)
36 impulsivity 58 Occasional (29-5%)
37 action tremor 58 Occasional (29-5%)
38 drooling 58 Occasional (29-5%)
39 eeg with generalized epileptiform discharges 58 Occasional (29-5%)
40 progressive gait ataxia 58 Very frequent (99-80%)
41 bradykinesia 58 Frequent (79-30%)
42 cerebral atrophy 31 HP:0002059
43 parkinsonism 58 Frequent (79-30%)
44 postnatal microcephaly 31 HP:0005484
45 tibial torsion 58 Occasional (29-5%)
46 incoordination 58 Occasional (29-5%)
47 cerebral visual impairment 31 HP:0100704
48 pes valgus 58 Occasional (29-5%)
49 generalized clonic seizures 58 Frequent (79-30%)
50 obsessive-compulsive trait 58 Frequent (79-30%)
51 cogwheel rigidity 58 Frequent (79-30%)
52 global brain atrophy 58 Occasional (29-5%)
53 photomyoclonic seizures 58 Frequent (79-30%)
54 eeg with focal epileptiform discharges 58 Occasional (29-5%)
55 complex febrile seizures 58 Frequent (79-30%)
56 focal aware seizure 58 Frequent (79-30%)
57 dysgenesis of the hippocampus 58 Occasional (29-5%)
58 multifocal epileptiform discharges 58 Frequent (79-30%)
59 limited knee extension 58 Occasional (29-5%)
60 cyanotic episode 58 Occasional (29-5%)
61 interictal epileptiform activity 58 Frequent (79-30%)
62 limited neck range of motion 58 Frequent (79-30%)
63 facial tics 58 Frequent (79-30%)
64 epilepsia partialis continua 58 Frequent (79-30%)
65 nonconvulsive status epilepticus 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
status epilepticus
mental deterioration
myoclonic seizures
absence seizures
more
Head And Neck Eyes:
visual impairment, cortical (in severe cases)

Head And Neck Head:
acquired microcephaly (in severe cases)

Clinical features from OMIM:

607208

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 6:


ataxia, myoclonic seizures, absence seizures

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 6:

45 (showing 6, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 CDKL5 GABRA1 GABRB3 GABRD GABRG2 KCNA1
2 mortality/aging MP:0010768 10.19 GABRA1 GABRB3 GABRD GABRG2 KCNA1 KCNQ2
3 growth/size/body region MP:0005378 10.17 GABRA1 GABRB3 GABRG2 KCNA1 KCNQ2 KCNQ3
4 nervous system MP:0003631 10.11 CDKL5 GABRA1 GABRB3 GABRD GABRG2 KCNA1
5 no phenotypic analysis MP:0003012 9.5 CDKL5 GABRA1 GABRB3 PVALB SCN1B SCN3A
6 normal MP:0002873 9.28 GABRA1 GABRB3 GABRG2 KCNT1 PVALB SCN1A

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 6

Drugs for Epileptic Encephalopathy, Early Infantile, 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 22, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2 Strawberry Approved Phase 3
3
tannic acid Approved Phase 3 1401-55-4
4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
5
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
6
Levetiracetam Approved Phase 2, Phase 3 102767-28-2 441341
7
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
8 Calcium, Dietary Phase 2, Phase 3
9 Nootropic Agents Phase 2, Phase 3
10 Sunflower Phase 3
11 Serotonin Uptake Inhibitors Phase 3
12 Serotonin Agents Phase 3
13
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
14
Verapamil Approved Phase 2 52-53-9 2520
15 Anti-Arrhythmia Agents Phase 2
16 Vasodilator Agents Phase 2
17 calcium channel blockers Phase 2
18 Hormones Phase 2
19
Epinephrine Approved, Vet_approved 51-43-4 5816
20
Racepinephrine Approved 329-65-7 838
21
Stiripentol Approved 49763-96-4
22 Epinephryl borate

Interventional clinical trials:

(showing 39, show less)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Open-label, Flexible Dose Study to Assess the Long-term Safety of Pharmaceutical Cannabidiol Oral Solution as an Adjunctive Treatment for Pediatric Subjects With a Treatment-resistant Seizure Disorder Who Complete INS011-14-029 or Part A of INS011-15-054 Completed NCT02318602 Phase 3 Cannabidiol Oral Solution
2 A Multicenter, 2-Cohort Trial to First Assess the Pharmacokinetic and Safety Profile of a Single Dose of ZX008 (Fenfluramine Hydrochloride) Oral Solution When Added to Standard of Care , Followed by a Randomized, Double-blind, Placebo-controlled Parallel Group Evaluation of the Efficacy, Safety, and Tolerability of ZX008 as Adjunctive Antiepileptic Therapy to Stiripentol Treatment in Children and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
3 A Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome. Completed NCT02224703 Phase 3 GWP42003-P;Placebo Control
4 A Double Blind, Placebo Controlled Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
5 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Recruiting NCT02826863 Phase 3 ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
6 Modified Atkins Diet Versus Levetiracetam for Refractory Epilepsy in Children: A Randomized Open-Label Study Recruiting NCT04172311 Phase 2, Phase 3 Levetiracetam
7 A Double-Blind, Placebo-Controlled, Parallel-Group Study of Cannabidiol Plus Tetrahydrocannabinol (CBD+THC) Given as Adjunctive Therapy in Patients With Refractory Seizures Recruiting NCT03808935 Phase 3 Medical Cannabis;Placebo
8 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
9 An Open Label Extension Study to Investigate the Safety of Cannabidiol (GWP42003-P; CBD) in Children and Young Adults With Inadequately Controlled Dravet or Lennox-Gastaut Syndromes. Active, not recruiting NCT02224573 Phase 3 GWP42003-P
10 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
11 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy for Seizures in Patients With Rare Seizure Disorders Such as Epileptic Encephalopathies Including Dravet Syndrome and Lennox-Gastaut Syndrome Enrolling by invitation NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
12 An Exploratory, Pilot Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome: A Sub-study to the ZX008-1503 Open-Label Extension Trial Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
13 Multi-site, Prospective, Open-label, Long-term, Flexible Dose, Interventional Study to Evaluate the Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
14 Multi-site, Prospective, Randomised, Double-blind, Placebo-controlled, Parallel-group, Interventional Study to Evaluate the Efficacy, Safety, and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
15 A Multicenter, Randomized, Double-blind, Placebo- Controlled, Interventional Study to Assess the Safety and Efficacy of Pharmaceutical Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Subjects With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
16 Verapamil as Adjunctive Seizure Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
17 A Double Blind, Placebo-controlled, Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091206 Phase 2 GWP42003-P 5 mg/kg/day Dose;Placebo control;GWP42003-P 10 mg/kg/day Dose;GWP42003-P 20 mg/kg/day Dose
18 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo
19 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy Recruiting NCT03635073 Phase 2 TAK-935
20 An Open-Label Trial to Assess the Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Combination With Cannabidiol, as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome or Lennox-Gastaut Syndrome Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 0.2 and 0.8 mg/kg/day
21 A Phase 2 Randomized, Double-Masked Placebo-Controlled Crossover Safety and Tolerability Study of Ataluren for Drug Resistant Epilepsy in Patients With Nonsense Mutation CDKL5 or Dravet Syndrome Active, not recruiting NCT02758626 Phase 2 ataluren;Placebo
22 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
23 A Phase I, Placebo-Controlled, Double-Blind, 2-Period Study to Assess Safety and Pharmacokinetics of Escalating Single and Multiple Oral Doses of EPX-100 in Fasting Healthy Subjects and Following a High-Fat Meal Recruiting NCT04069689 Phase 1 EPX-100 (Clemizole Hydrochloride);Placebos
24 Cannabinoid Therapy in Medically Refractory Pediatric Epilepsy - Phase 1: Dosing and Tolerability Study of a Cannabidiol-Rich Whole Plant Extract of Cannabis. Active, not recruiting NCT02983695 Phase 1 TIL-TC150
25 Cannabidiol in Children With Refractory Epileptic Encephalopathy: A Phase 1 Open Label Dose Escalation Study (CARE-E) Active, not recruiting NCT03024827 Phase 1 CanniMed® 1:20
26 A 2-part Study to Investigate the Dose-ranging Pharmacokinetics and Tolerability, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Active, not recruiting NCT02286986 Phase 1 Cannabidiol
27 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Approved for marketing NCT01983722 Stiripentol
28 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
29 Cardiac Arrhythmias in Dravet Syndrome: an Observational, International, Multicentre Study Completed NCT02415686
30 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285
31 Treatment of Gait Disorders in Children With Dravet Syndrome Recruiting NCT03857451
32 Neuronal Excitability of Hyperpolarization-activated Cyclic Nucleotide-gated (HCN1) Channel Mutations in Dravet Syndrome Recruiting NCT02896608
33 ZX008 Expanded Access Protocol - Dravet Syndrome Treatment Plan Available NCT03780127 Fenfluramine Hydrochloride
34 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919
35 Compassionate Use of Stiripentol in Intractable Epilepsy Due to Dravet Syndrome No longer available NCT01533506 stiripentol
36 Compassionate Use of Stiripentol in Dravet Syndrome No longer available NCT01835314 Stiripentol
37 Expanded Access Use of Stiripentol in Participants With Dravet Syndrome or Epileptic Encephalopathies Associated With Sodium Channel Mutations No longer available NCT02239276 Stiripentol
38 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297
39 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680

Search NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 6

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 6

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 6:

# Genetic test Affiliating Genes
1 Severe Myoclonic Epilepsy in Infancy 29 SCN1A SCN9A
2 Dravet Syndrome, Modifier of 29

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 6

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 6:

40
Brain, Heart, Testes, T Cells, Temporal Lobe, Cortex, Skeletal Muscle

Publications for Epileptic Encephalopathy, Early Infantile, 6

Articles related to Epileptic Encephalopathy, Early Infantile, 6:

(showing 873, show less)
# Title Authors PMID Year
1
De novo SCN1A mutations in migrating partial seizures of infancy. 61 56 6
21753172 2011
2
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. 56 6
21555645 2011
3
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. 56 6
17000989 2006
4
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. 56 6
16505326 2006
5
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 56 6
12566275 2003
6
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 56 6
11359211 2001
7
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 54 61 56
20522430 2010
8
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 54 61 56
19589774 2010
9
Parental SCN1A mutation mosaicism in familial Dravet syndrome. 54 61 56
19673951 2009
10
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 54 61 56
19763161 2009
11
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 54 61 56
18930999 2009
12
STXBP1 Encephalopathy with Epilepsy 61 6
27905812 2016
13
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 61 6
24623842 2014
14
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene. 61 56
20484682 2010
15
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 61 56
20431604 2010
16
Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes. 61 56
19764027 2009
17
SCN1A Seizure Disorders 61 6
20301494 2007
18
The spectrum of SCN1A-related infantile epileptic encephalopathies. 61 56
17347258 2007
19
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. 61 56
17190949 2006
20
Mortality in Dravet syndrome: A review. 61 52
27732919 2016
21
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
22
Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. 56
22914087 2012
23
Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 56
20879882 2010
24
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
25
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 56
19522081 2009
26
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 6
19557857 2009
27
Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. 56
19234123 2009
28
Genetics of epilepsy syndromes starting in the first year of life. 56
19153375 2009
29
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. 6
18680191 2008
30
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 6
18469812 2008
31
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
32
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. 56
17881658 2007
33
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. 56
16921370 2006
34
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 56
12821740 2003
35
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 56
12083760 2002
36
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. 56
11940708 2002
37
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. 56
11748509 2002
38
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? 56
11488881 2001
39
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. 56
11422340 2001
40
Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 56
9810557 1998
41
Epidemiology of severe myoclonic epilepsy of infancy. 56
1695145 1990
42
Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy. 56
2111766 1990
43
Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy. 56
2111767 1990
44
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 56
2502382 1989
45
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. 54 61
20447868 2010
46
Mutations in GABAA receptor subunits associated with genetic epilepsies. 54 61
20308251 2010
47
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 54 61
19782004 2009
48
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. 54 61
19783390 2009
49
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 54 61
19734009 2009
50
Dravet syndrome: from electroclinical characteristics to molecular biology. 54 61
19702726 2009
51
A functional null mutation of SCN1B in a patient with Dravet syndrome. 54 61
19710327 2009
52
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. 54 61
19666879 2009
53
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy. 54 61
19303743 2009
54
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? 54 61
19203856 2009
55
Molecular basis of severe myoclonic epilepsy in infancy. 54 61
19203854 2009
56
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? 54 61
19292758 2009
57
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 54 61
19214208 2009
58
Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all. 54 61
19087113 2008
59
A screening test for the prediction of Dravet syndrome before one year of age. 54 61
18076640 2008
60
Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients. 54 61
17621480 2007
61
Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. 54 61
17129991 2006
62
Seizures of idiopathic generalized epilepsies. 54 61
16302874 2005
63
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. 54 61
12773292 2003
64
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial. 61
31862249 2020
65
Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study. 61
31737911 2020
66
Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants. 61
31677916 2020
67
Adolescent behavioral abnormalities in a Scn1a+/- mouse model of Dravet syndrome. 61
31870807 2020
68
Accuracy of Flash Glucose Monitoring in a Patient with Dravet Syndrome on a Ketogenic Diet. 61
31529424 2020
69
SCN1A Variants in vaccine-related febrile seizures: A prospective study. 61
31755124 2020
70
The cannabidiol conundrum: potential benefits and risks of cannabidiol products for children. 61
31833952 2020
71
Defining body-weight reduction as a humane endpoint: a critical appraisal. 61
31665969 2020
72
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy. 61
31765958 2020
73
The role of cannabinoids in epilepsy treatment: a critical review of efficacy results from clinical trials. 61
31916540 2020
74
Adverse effects of cannabinoids. 61
31941644 2020
75
The proposed mechanism of action of CBD in epilepsy. 61
31919042 2020
76
Source of cannabinoids: what is available, what is used, and where does it come from? 61
31941643 2020
77
SCN9A Epileptic Encephalopathy Mutations Display a Gain-of-function Phenotype and Distinct Sensitivity to Oxcarbazepine. 61
31372899 2020
78
From Genetic Testing to Precision Medicine in Epilepsy. 61
31981099 2020
79
Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome. 61
31943325 2020
80
dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice. 61
31607539 2020
81
Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome. 61
31830809 2020
82
GluN2A NMDA Receptor Enhancement Improves Brain Oscillations, Synchrony, and Cognitive Functions in Dravet Syndrome and Alzheimer's Disease Models. 61
31940483 2020
83
Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes. 61
31865891 2020
84
Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial. 61
31790543 2019
85
SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models. 61
31904127 2019
86
SCN1A-related phenotypes: Epilepsy and beyond. 61
31904117 2019
87
Dravet syndrome: Treatment options and management of prolonged seizures. 61
31904119 2019
88
Dravet syndrome and other sodium channel-related encephalopathies. 61
31904121 2019
89
Circadian regulation of sleep in a pre-clinical model of Dravet syndrome: dynamics of sleep stage and siesta re-entrainment. 61
31346614 2019
90
Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment. 61
31445158 2019
91
Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults. 61
31904122 2019
92
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies. 61
31904125 2019
93
Abnormal brain gamma oscillations in response to auditory stimulation in Dravet syndrome. 61
31879226 2019
94
A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome. 61
31864146 2019
95
Serotonin abnormalities in Dravet syndrome mice before and after the age of seizure onset. 61
31445030 2019
96
Response to cannabidiol in epilepsy of infancy with migrating focal seizures associated with KCNT1 mutations: An open-label, prospective, interventional study. 61
31926846 2019
97
Polygala tenuifolia-Acori tatarinowii herbal pair as an inspiration for substituted cinnamic α-asaronol esters: Design, synthesis, anticonvulsant activity, and inhibition of lactate dehydrogenase study. 61
31539780 2019
98
The efficacy of perampanel in young children with drug-resistant epilepsy. 61
31901668 2019
99
Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions. 61
31734883 2019
100
[New anti-epileptic drugs in Paediatrics]. 61
31708334 2019
101
SCN1B-linked early infantile developmental and epileptic encephalopathy. 61
31709768 2019
102
Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions. 61
31625159 2019
103
A new mechanism for cannabidiol in regulating the one-carbon cycle and methionine levels in Dictyostelium and in mammalian epilepsy models. 61
31693171 2019
104
Case studies in neuroscience: a novel amino acid duplication in the NH2-terminus of the brain sodium channel NaV1.1 underlying Dravet syndrome. 61
31533007 2019
105
Long-term efficacy of add-on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study. 61
31630399 2019
106
Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study. 61
31582194 2019
107
Impairment of Sharp-Wave Ripples in a Murine Model of Dravet Syndrome. 61
31537705 2019
108
Pharmacometrics of clobazam in pediatrics: Prediction of effective clobazam doses for Dravet syndrome. 61
31563030 2019
109
Stiripentol: A Novel Antiseizure Medication for the Management of Dravet Syndrome. 61
31167540 2019
110
Pharmacokinetics of Phytocannabinoid Acids and Anticonvulsant Effect of Cannabidiolic Acid in a Mouse Model of Dravet Syndrome. 61
31686510 2019
111
Instrumented gait analysis of patients with Dravet syndrome. 61
31679959 2019
112
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. 61
31465153 2019
113
Stiripentol: A Review in Dravet Syndrome. 61
31617141 2019
114
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization. 61
31782251 2019
115
Why we urgently need improved seizure and epilepsy therapies for children and neonates. 61
31751548 2019
116
Social cognition and psychopathology in childhood and adolescence. 61
31196824 2019
117
Positron Emission Tomography in Pediatric Neurodegenerative Disorders. 61
31416725 2019
118
Corrigendum to "Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome" [Epilepsy Res. 154 (2019) 34-38]. 61
31255404 2019
119
Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation. 61
31578435 2019
120
Defective Excitatory/Inhibitory Synaptic Balance and Increased Neuron Apoptosis in a Zebrafish Model of Dravet Syndrome. 61
31590334 2019
121
Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures. 61
30828793 2019
122
Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation. 61
31176277 2019
123
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 61
31435640 2019
124
Clinical trial simulations of the interaction between cannabidiol and clobazam and effect on drop-seizure frequency. 61
31657863 2019
125
Potassium Bromide in the Treatment of Pediatric Refractory Epilepsy. 61
31111774 2019
126
Dravet syndrome and parkinsonism: A case report investigating the dopaminergic system. 61
31444242 2019
127
Recent Advances in the Drug Treatment of Dravet Syndrome. 61
31549357 2019
128
A more efficient conditional mouse model of Dravet syndrome: Implications for epigenetic selection and sex-dependent behaviors. 61
31265868 2019
129
Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature. 61
31301455 2019
130
Pharmacological and Therapeutic Properties of Cannabidiol for Epilepsy. 61
31372958 2019
131
Valproate and female patients: Prescribing attitudes of Italian epileptologists. 61
31252276 2019
132
Motor development in children with Dravet syndrome. 61
30644536 2019
133
Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. 61
30680721 2019
134
Erratum: Investigating the Therapeutic Mechanism of Cannabidiol in a Human Induced Pluripotent Stem Cell (iPSC)-Based Model of Dravet Syndrome. 61
31371458 2019
135
Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results. 61
31022635 2019
136
Hippocampal deletion of NaV1.1 channels in mice causes thermal seizures and cognitive deficit characteristic of Dravet Syndrome. 61
31346088 2019
137
Potentiating α2 subunit containing perisomatic GABAA receptors protects against seizures in a mouse model of Dravet syndrome. 61
31045243 2019
138
Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome. 61
31035242 2019
139
Donepezil increases resistance to induced seizures in a mouse model of Dravet syndrome. 61
31402621 2019
140
The therapeutic effect of stiripentol in Gabrg2+/Q390X mice associated with epileptic encephalopathy. 61
31022638 2019
141
Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy. 61
31179531 2019
142
A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany. 61
31247127 2019
143
Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations. 61
31400703 2019
144
Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series. 61
31439038 2019
145
Urgent need for "EBMM" in pediatric oncology: Evidence based medical marijuana. 61
31402734 2019
146
G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters. 61
30834459 2019
147
Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations. 61
31112829 2019
148
Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies. 61
30117335 2019
149
[Clinical features of epilepsies associated with GABRB2 variants]. 61
31269553 2019
150
Cannabidiol: A Review of Clinical Efficacy and Safety in Epilepsy. 61
31053391 2019
151
Evaluation of Selective 5-HT2C Agonists in Acute Seizure Models. 61
31082204 2019
152
Impact of CYP2C19 phenotypes on clinical efficacy of stiripentol in Japanese patients with Dravet syndrome. 61
31318844 2019
153
Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy. 61
31257984 2019
154
Vasoactive intestinal peptide-expressing interneurons are impaired in a mouse model of Dravet syndrome. 61
31282864 2019
155
A novel variant in SCN1A gene associated with Dravet syndrome. 61
31102827 2019
156
Dravet Syndrome: An Overview. 61
31497436 2019
157
Double somatic mosaicism in a child with Dravet syndrome. 61
31086826 2019
158
Engineering brain activity patterns by neuromodulator polytherapy for treatment of disorders. 61
31197165 2019
159
Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children. 61
31009440 2019
160
Mitochondrial Regulation of the Hippocampal Firing Rate Set Point and Seizure Susceptibility. 61
31047779 2019
161
Cannabidiol: A New Hope for Patients With Dravet or Lennox-Gastaut Syndromes. 61
30616356 2019
162
Scn1b deletion in adult mice results in seizures and SUDEP. 61
31211177 2019
163
Successful treatment of seizure disorder by evaluating phenobarbital clearance in a paediatric patient undergoing continuous haemodiafiltration. 61
30770589 2019
164
A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies. 61
30659983 2019
165
Stiripentol for the treatment of seizures in Dravet syndrome. 61
31017478 2019
166
Dravet syndrome - Time to consider the burden beyond the disease. 61
31178017 2019
167
Is Targeting of Compensatory Ion Channel Gene Expression a Viable Therapeutic Strategy for Dravet Syndrome? 61
31035820 2019
168
Commentary on gait deviations in patients with Dravet syndrome: A systematic review. 61
31178015 2019
169
Longitudinal change of cardiac electrical and autonomic function and potential risk factors in children with dravet syndrome. 61
30870727 2019
170
Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany. 61
30871879 2019
171
Identifying mutations in epilepsy genes: Impact on treatment selection. 61
30870728 2019
172
Gait deviations in patients with dravet syndrome: A systematic review. 61
30940509 2019
173
Safety, efficacy, and mechanisms of action of cannabinoids in neurological disorders. 61
30910443 2019
174
The direct cost of seizure events in severe childhood-onset epilepsies: A retrospective claims-based analysis. 61
30831405 2019
175
Stiripentol protects against calcium oxalate nephrolithiasis and ethylene glycol poisoning. 61
30946030 2019
176
Disordered breathing in a mouse model of Dravet syndrome. 61
31025941 2019
177
Stiripentol for the treatment of seizures associated with Dravet syndrome. 61
30900478 2019
178
Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome. 61
30996233 2019
179
SCN1A gain of function in early infantile encephalopathy. 61
30779207 2019
180
Ketogenic diet as a successful early treatment modality for SCN2A mutation. 61
30415926 2019
181
Discovery of novel 4-phenyl-2-(pyrrolidinyl)nicotinamide derivatives as potent Nav1.1 activators. 61
30704812 2019
182
What is the role of cannabidiol in refractory epilepsy? 61
30817475 2019
183
Don't Fear the Reefer-Evidence Mounts for Plant-Based Cannabidiol as Treatment for Epilepsy. 61
30955420 2019
184
Fenfluramine, a serotonin-releasing drug, prevents seizure-induced respiratory arrest and is anticonvulsant in the DBA/1 mouse model of SUDEP. 61
30719703 2019
185
Social outcomes for adults with a history of childhood-onset epilepsy: A systematic review and meta-analysis. 61
30731296 2019
186
Cannabidiol as adjunctive treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome. 61
30938373 2019
187
Efficacy of the ketogenic diet in Chinese children with Dravet syndrome: A focus on neuropsychological development. 61
30641252 2019
188
SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases. 61
30921204 2019
189
C57BL/6J and C57BL/6N substrains differentially influence phenotype severity in the Scn1a+/- mouse model of Dravet syndrome. 61
30868126 2019
190
Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype. 61
30868114 2019
191
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. 61
30776697 2019
192
Drug repurposing for Dravet syndrome in scn1Lab-/- mutant zebrafish. 61
30663052 2019
193
Caregiver impact and health service use in high and low severity Dravet syndrome: A multinational cohort study. 61
30616222 2019
194
Individualized treatment approaches: Fenfluramine, a novel antiepileptic medication for the treatment of seizures in Dravet syndrome. 61
30269941 2019
195
Long-term cannabidiol treatment in patients with Dravet syndrome: An open-label extension trial. 61
30582156 2019
196
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing. 61
30368457 2019
197
RNA-seq Analysis of the SCN1A-KO Model based on CRISPR/Cas9 Genome Editing Technology. 61
30529264 2019
198
Sudden unexpected death in GEFS+ families with sodium channel pathogenic variants. 61
30660056 2019
199
In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations. 61
30735520 2019
200
Time of Day and a Ketogenic Diet Influence Susceptibility to SUDEP in Scn1aR1407X/+ Mice. 61
30984098 2019
201
Home-cage monitoring ascertains signatures of ictal and interictal behavior in mouse models of generalized seizures. 61
31697745 2019
202
Efficacy of cannabinoids in paediatric epilepsy. 61
30402932 2019
203
Small changes in synaptic gain lead to seizure-like activity in neuronal network at criticality. 61
30705357 2019
204
Outcomes and comorbidities of SCN1A-related seizure disorders. 61
30527252 2019
205
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. 61
31814998 2019
206
A phase I, randomized, open-label, single-dose, 3-period crossover study to evaluate the drug-drug interaction between ZX008 (fenfluramine HCl oral solution) and a regimen of stiripentol, clobazam, and valproate in healthy subjects
. 61
30336805 2019
207
Behavior problems and health-related quality of life in Dravet syndrome. 61
30578097 2019
208
Zebrafish studies identify serotonin receptors mediating antiepileptic activity in Dravet syndrome. 61
31667472 2019
209
Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain. 61
30638257 2019
210
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations. 61
30805006 2019
211
The Efficacy of Ketogenic Diet in 60 Chinese Patients With Dravet Syndrome. 61
31249551 2019
212
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome. 61
31001185 2019
213
More daytime sleepiness and worse quality of sleep in patients with Dravet Syndrome compared to other epilepsy patients. 61
30340858 2019
214
Editorial relating to paper by Schoonjans et al. EJPN 2019; A good night's sleep in Dravet syndrome - an unmet need. 61
30642535 2019
215
Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. 61
30605686 2019
216
Anesthetic Management of Patient With Dravet Syndrome: A Case Report. 61
31545672 2019
217
Gene expression profiling in a mouse model of Dravet syndrome. 61
30347190 2019
218
Efficacy of Stiripentol and the Clinical Outcome in Dravet Syndrome. 61
30362398 2019
219
Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. 61
30673603 2019
220
Dravet Syndrome: A Developmental and Epileptic Encephalopathy. 61
30838929 2019
221
Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study. 61
30838190 2019
222
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report. 61
30642272 2019
223
Emerging drugs for the treatment of Dravet syndrome. 61
30482063 2018
224
A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene. 61
30872930 2018
225
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome. 61
30558019 2018
226
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. 61
30526861 2018
227
[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome. 61
30176532 2018
228
Perineal stimulation triggering seizures in a child with Dravet syndrome. 61
30336400 2018
229
Dravet syndrome in South African infants: Tools for an early diagnosis. 61
30321769 2018
230
A novel GABAergic dysfunction in human Dravet syndrome. 61
30306542 2018
231
Efficacy and Safety of Cannabidiol in Epilepsy: A Systematic Review and Meta-Analysis. 61
30390221 2018
232
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. 61
29314583 2018
233
A pilot, open-label study of the effectiveness and tolerability of low-dose ZX008 (fenfluramine HCl) in Lennox-Gastaut syndrome. 61
30146701 2018
234
Diaper changing-induced reflex seizures in CDKL5-related epilepsy. 61
30378547 2018
235
Extending the use of stiripentol to SLC13A5-related epileptic encephalopathy. 61
29895383 2018
236
Progress report on new antiepileptic drugs: A summary of the Fourteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIV). II. Drugs in more advanced clinical development. 61
30368788 2018
237
Current Treatment Strategies and Future Treatment Options for Dravet Syndrome. 61
30315507 2018
238
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report. 61
30305042 2018
239
Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study. 61
30353809 2018
240
Economic Evaluation of Stiripentol for Dravet Syndrome: A Cost-Utility Analysis. 61
29761351 2018
241
Cannabidiol reduced frequency of convulsive seizures in drug resistant Dravet syndrome. 61
28939549 2018
242
A Transient Developmental Window of Fast-Spiking Interneuron Dysfunction in a Mouse Model of Dravet Syndrome. 61
30104343 2018
243
A prospective open-label trial of a CBD/THC cannabis oil in dravet syndrome. 61
30250864 2018
244
Do children with Dravet syndrome continue to benefit from stiripentol for long through adulthood? 61
30132836 2018
245
[Clinical phenotypes of TBC1D24 gene related epilepsy]. 61
30180405 2018
246
Novel and de novo mutations in pediatric refractory epilepsy. 61
30185235 2018
247
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes. 61
30146492 2018
248
Pharmaceutical Approval Update. 61
30186023 2018
249
Cannabis for the Treatment of Epilepsy: an Update. 61
30194563 2018
250
Efficacy and tolerability of perampanel in children and adolescents with pharmacoresistant epilepsy: The first real-world evaluation in Asian pediatric neurology clinics. 61
30032806 2018
251
The adult motor phenotype of Dravet syndrome is associated with mutation of the STXBP1 gene and responds well to cannabidiol treatment. 61
29929108 2018
252
Mapt deletion fails to rescue premature lethality in two models of sodium channel epilepsy. 61
30128323 2018
253
The Lack of Effect of Food on the Pharmacokinetics of ZX008 (Fenfluramine Oral Solution): Results of a Single-dose, Two-period Crossover Study. 61
29941151 2018
254
Correction to: Treatment Strategies for Dravet Syndrome. 61
30027402 2018
255
Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death. 61
30076230 2018
256
Seizure Freedom in Patients with Dravet Syndrome with Contraceptives: A Case Report with Two Patients. 61
29571173 2018
257
Prospective study of the efficacy of a ketogenic diet in 20 patients with Dravet syndrome. 61
29990707 2018
258
Marked efficacy of combined three-drug therapy (Sodium Valproate, Topiramate and Stiripentol) in a patient with Dravet syndrome. 61
29265387 2018
259
Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene. 61
29981888 2018
260
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment. 61
28764992 2018
261
[Phenotype study of SCN2A gene related epilepsy]. 61
29996185 2018
262
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing. 61
29635106 2018
263
The ventrolateral medulla and medullary raphe in sudden unexpected death in epilepsy. 61
29608654 2018
264
Investigational cannabinoids in seizure disorders, what have we learned thus far? 61
29842819 2018
265
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes. 61
29750338 2018
266
The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome. 61
29573403 2018
267
Population Pharmacokinetics of Stiripentol in Paediatric Patients with Dravet Syndrome Treated with Stiripentol, Valproate and Clobazam Combination Therapy. 61
28819726 2018
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Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study. 61
29473155 2018
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Acute encephalopathy after febrile status epilepticus: an underdiagnosed, misunderstood complication of Dravet syndrome. 61
29655225 2018
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Long-term pragmatic use of stiripentol for Dravet syndrome. 61
29512151 2018
271
Retracing the natural history of Dravet syndrome: Report and review of literature. 61
29766956 2018
272
Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function. 61
28686290 2018
273
Benign and severe early-life seizures: a round in the first year of life. 61
29764460 2018
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The Problem of Rarity: Estimation of Prevalence in Rare Disease. 61
29753345 2018
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Fenfluramine diminishes NMDA receptor-mediated seizures via its mixed activity at serotonin 5HT2A and type 1 sigma receptors. 61
29805740 2018
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Stiripentol add-on therapy for focal refractory epilepsy. 61
29747241 2018
277
Ketogenic diet effects on 52 children with pharmacoresistant epileptic encephalopathy: A clinical prospective study. 61
29761022 2018
278
The genetics and molecular biology of fever-associated seizures or epilepsy. 61
29661262 2018
279
Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene. 61
29453127 2018
280
Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells. 61
29337050 2018
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Dravet Syndrome: A Sodium Channel Interneuronopathy. 61
30123852 2018
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Epileptic Encephalopathy and Autism: A Complex Interplay. 61
30090156 2018
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Treatment Strategies for Dravet Syndrome. 61
29594870 2018
284
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. 61
29605429 2018
285
Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders. 61
29654278 2018
286
Altered vaccine-induced immunity in children with Dravet syndrome. 61
29512885 2018
287
Randomized, dose-ranging safety trial of cannabidiol in Dravet syndrome. 61
29540584 2018
288
Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients. 61
29295803 2018
289
Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis. 61
29408779 2018
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Somatic mosaic deletions involving SCN1A cause Dravet syndrome. 61
29341473 2018
291
Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. 61
29329111 2018
292
The direct and indirect costs of Dravet Syndrome. 61
29414539 2018
293
Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey. 61
29414545 2018
294
Reefer to the Rescue: The Dope on Cannabidiol as a Multi-Symptom Panacea for Dravet Syndrome. 61
29643753 2018
295
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. 61
29558884 2018
296
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. 61
29460957 2018
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Developmental Effects of Cannabidiol and Δ9-Tetrahydrocannabinol in Zebrafish. 61
29106691 2018
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Cannabis for paediatric epilepsy: challenges and conundrums. 61
29438649 2018
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Sleep problems in Dravet syndrome: a modifiable comorbidity. 61
29110313 2018
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Sleep, oxygen saturation, and seizures in Dravet syndrome. 61
29238957 2018
301
Is epilepsy the cause of comorbidities in Dravet syndrome? 61
29124748 2018
302
Cannabidiol for drug-resistant seizures in the Dravet syndrome. 61
29314377 2018
303
Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey. 61
28984349 2018
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Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations. 61
29141279 2018
305
Investigating the Therapeutic Mechanism of Cannabidiol in a Human Induced Pluripotent Stem Cell (iPSC)-Based Model of Dravet Syndrome. 61
31186344 2018
306
Development and content validation of a preliminary core set of patient- and caregiver-relevant outcomes for inclusion in a potential composite endpoint for Dravet Syndrome. 61
29108913 2018
307
Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta-analysis. 61
29119560 2018
308
Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening. 61
29915537 2018
309
Brain activity patterns in high-throughput electrophysiology screen predict both drug efficacies and side effects. 61
29335539 2018
310
Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology. 61
29740331 2018
311
Can the combination of hyperthermia, seizures and ion channel dysfunction cause fatal post-ictal cerebral edema in patients with SCN1A mutations? 61
29692967 2018
312
Efficacy of rufinamide in childhood refractory epilepsy. 61
30511535 2018
313
Cannabinoids in the Treatment of Epilepsy: Hard Evidence at Last? 61
29344464 2017
314
Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE). 61
28951233 2017
315
[Analysis of SCN1A deletions or duplications in patients with Dravet syndrome]. 61
29188601 2017
316
The synthetic neuroactive steroid SGE-516 reduces seizure burden and improves survival in a Dravet syndrome mouse model. 61
29127345 2017
317
[Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome]. 61
29141311 2017
318
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort. 61
29142202 2017
319
Dravet syndrome and its mimics: Beyond SCN1A. 61
28880996 2017
320
Parental Perception of Comorbidities in Children With Dravet Syndrome. 61
28982531 2017
321
Growth and endocrine function in children with Dravet syndrome. 61
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The potential role of cannabinoids in epilepsy treatment. 61
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323
Cardiovascular safety of low-dose fenfluramine in Dravet syndrome: a review of its benefit-risk profile in a new patient population. 61
28704161 2017
324
Cannabidiol attenuates seizures and social deficits in a mouse model of Dravet syndrome. 61
28973916 2017
325
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. 61
28794249 2017
326
Age-related "Sleep/nocturnal" tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome. 61
28683344 2017
327
Anticonvulsant Effects of Cannabidiol in Dravet Syndrome. 61
29225539 2017
328
Dravet syndrome: Characteristics, comorbidities, and caregiver concerns. 61
28732259 2017
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Low glycemic index treatment in patients with drug-resistant epilepsy. 61
28431772 2017
330
Forty Years of Sodium Channels: Structure, Function, Pharmacology, and Epilepsy. 61
28589518 2017
331
Dravet syndrome, SUDEP, and omega-3 fatty acids: Lessons from the past, learning of the present, and perspectives for the future. 61
28666586 2017
332
Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: A meta-analysis of 68 patients. 61
28666193 2017
333
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. 61
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Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. 61
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Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome. 61
28556246 2017
336
Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice. 61
28505490 2017
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Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice. 61
28586508 2017
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A mutation in GABRB3 associated with Dravet syndrome. 61
28544625 2017
339
Epilepsy: Cannabidiol reduces seizure frequency in Dravet syndrome. 61
28621765 2017
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Self-induction in Photosensitive Children With Dravet Syndrome. 61
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Dravet syndrome with SCN1B gene mutation: A rare entity. 61
28681755 2017
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Behavioral Comorbidities and Drug Treatments in a Zebrafish scn1lab Model of Dravet Syndrome. 61
28812061 2017
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Opposing Phenotypes in Dravet Syndrome Patient-Derived Induced Pluripotent Stem Cell Neurons: Can Everyone Be Right? 61
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Early-life febrile seizures worsen adult phenotypes in Scn1a mutants. 61
28373025 2017
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[PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review]. 61
28690234 2017
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Serotonergic modulation as a pharmacological modality in the treatment of Dravet syndrome. 61
28402511 2017
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Analysis of heart rate variability and risk factors for SUDEP in patients with drug-resistant epilepsy. 61
28549245 2017
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Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. 61
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Dravet syndrome: a new causative SCN1A mutation? 61
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Myoclonic Absence Seizures in Dravet Syndrome. 61
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The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research. 61
28431364 2017
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Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome. 61
28490751 2017
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Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome. 61
28525652 2017
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Screening of conventional anticonvulsants in a genetic mouse model of epilepsy. 61
28491900 2017
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Stiripentol in the Management of Epilepsy. 61
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Antiepileptic drugs for the treatment of infants with severe myoclonic epilepsy. 61
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Cannabinoids in treatment-resistant epilepsy: A review. 61
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[Infantile epileptic encephalopathies: what matters is genetics]. 61
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Molecular Genetics of Epilepsy: A Clinician's Perspective. 61
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Vagus Nerve Stimulation in Intractable Epilepsy Associated With SCN1A Gene Abnormalities. 61
28079431 2017
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Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases. 61
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Impaired intracortical inhibition demonstrated in vivo in people with Dravet syndrome. 61
28356460 2017
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Use of social media to assess the effectiveness of vagal nerve stimulation in Dravet syndrome: A caregiver's perspective. 61
28320117 2017
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[Clinical and neuroimaging features of acute encephalopathy after status epilepticus in Dravet syndrome]. 61
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Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. 61
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Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. 61
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Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. 61
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Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome. 61
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Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. 61
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[A case of West syndrome with a deletion at chromosome 2q24.3-q31.3]. 61
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Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. 61
28460589 2017
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Add-on stiripentol elevates serum valproate levels in patients with or without concomitant topiramate therapy. 61
28081475 2017
373
De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome. 61
28084635 2017
374
Photosensitivity in Dravet syndrome is under-recognized and related to prognosis. 61
28042998 2017
375
Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. 61
28012175 2017
376
Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients. 61
27790834 2017
377
Dysarthria and broader motor speech deficits in Dravet syndrome. 61
28148630 2017
378
A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management. 61
28102593 2017
379
Movement-activated cortical myoclonus in Dravet syndrome. 61
28126647 2017
380
Audit of use of stiripentol in adults with Dravet syndrome. 61
27231140 2017
381
[Intermittent convulsions for 1.5 years and psychomotor retardation in a girl]. 61
28100327 2017
382
From genotype to phenotype in Dravet disease. 61
27817982 2017
383
Antiepileptic Drugs in Clinical Development: Differentiate or Die? 61
28799516 2017
384
A case of Dravet syndrome complicated by human herpesvirus-6 infection-associated acute encephalopathy and choreoathetosis. 61
30011152 2017
385
Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome. 61
28540321 2017
386
Two mild cases of Dravet syndrome with truncating mutation of SCN1A. 61
27544716 2017
387
SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. 61
28079314 2017
388
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. 61
27527380 2017
389
Pharmacological Analysis of the Anti-epileptic Mechanisms of Fenfluramine in scn1a Mutant Zebrafish. 61
28428755 2017
390
A case of Dravet syndrome with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data. 61
27523882 2017
391
Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome. 61
28197552 2017
392
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. 61
28686619 2017
393
Duration of use of oral cannabis extract in a cohort of pediatric epilepsy patients. 61
27859038 2017
394
Mortality in Dravet syndrome. 61
27810515 2016
395
Crouch Gait in Dravet Syndrome. 61
27909386 2016
396
Expecting the Unexpected: Lack of In Vivo Network Defects in an Scn1a Model of Dravet Syndrome. 61
27857626 2016
397
Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy. 61
27726903 2016
398
Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity. 61
27762395 2016
399
Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq. 61
27768696 2016
400
In Reply: Supraventricular Tachycardia During Status Epilepticus in Dravet Syndrome: A Link Between Brain and Heart? 61
27480955 2016
401
The changing face of dietary therapy for epilepsy. 61
27586246 2016
402
Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A. 61
27653866 2016
403
PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. 61
27371789 2016
404
Palliative epilepsy surgery in Dravet syndrome-case series and review of the literature. 61
27465677 2016
405
Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome. 61
27246997 2016
406
Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study. 61
27389706 2016
407
Understanding Genotypes and Phenotypes in Epileptic Encephalopathies. 61
27781027 2016
408
Temperature-dependent changes in neuronal dynamics in a patient with an SCN1A mutation and hyperthermia induced seizures. 61
27582020 2016
409
Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome. 61
27367160 2016
410
Current understanding and neurobiology of epileptic encephalopathies. 61
26992889 2016
411
SCN8A-Related Epilepsy with Encephalopathy 61
27559564 2016
412
Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy. 61
27131289 2016
413
Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine. 61
27197941 2016
414
Epileptic spasms in clusters and associated syndromes other than West syndrome: A study of 48 patients. 61
27082650 2016
415
Dravet syndrome: Not just epilepsy. 61
27316245 2016
416
Dravet syndrome with favourable cognitive and behavioral development due to a novel SCN1A frameshift mutation. 61
27209029 2016
417
A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients. 61
27458797 2016
418
Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection. 61
27045673 2016
419
Reflex Seizures Triggered by Diaper Change in Dravet Syndrome. 61
26889571 2016
420
Motor neuropathy contributes to crouching in patients with Dravet syndrome. 61
27316242 2016
421
Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome. 61
27333023 2016
422
Pitfalls in genetic testing: the story of missed SCN1A mutations. 61
27465585 2016
423
Mosaic mutations in early-onset genetic diseases. 61
26716362 2016
424
SCN8A encephalopathy: Research progress and prospects. 61
27270488 2016
425
Stiripentol and vigabatrin current roles in the treatment of epilepsy. 61
26933940 2016
426
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. 61
26841829 2016
427
A Novel Long-term, Multi-Channel and Non-invasive Electrophysiology Platform for Zebrafish. 61
27305978 2016
428
Helping Families Cope with the Severe Stress of Dravet Syndrome. 61
27264140 2016
429
Cognitive-behavioral profiles in teenagers with Dravet syndrome. 61
26797655 2016
430
Treatment of Dravet Syndrome. 61
27264138 2016
431
Dravet Syndrome: Diagnosis and Long-Term Course. 61
27264139 2016
432
Pharmacotherapy for Dravet Syndrome. 61
26966048 2016
433
Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Behavioural and psychiatric disorders associated with childhood epilepsy syndromes. 61
27184676 2016
434
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies. 61
27544470 2016
435
Phenotypes of Dravet Syndrome. 61
27617639 2016
436
Serotonergic modulation for Dravet Syndrome treatment. 61
27189023 2016
437
[Genotype and phenotype of female Dravet syndrome with PCDH19 mutations]. 61
27143072 2016
438
Prevalence and Characteristics of Vaccination Triggered Seizures in Dravet Syndrome in Hong Kong: A Retrospective Study. 61
26995069 2016
439
Serotonergic Modulation as Effective Treatment for Dravet Syndrome in a Zebrafish Mutant Model. 61
26822114 2016
440
Emerging Antiepileptic Drugs for Severe Pediatric Epilepsies. 61
27544474 2016
441
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. 61
26818399 2016
442
Model systems for studying cellular mechanisms of SCN1A-related epilepsy. 61
26843603 2016
443
Analysis of endocannabinoid signaling elements and related proteins in lymphocytes of patients with Dravet syndrome. 61
27069631 2016
444
De novo GABRA1 mutations in Ohtahara and West syndromes. 61
26918889 2016
445
Supraventricular Tachycardia During Status Epilepticus in Dravet Syndrome: A Link Between Brain and Heart? 61
26803335 2016
446
Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy. 61
26271793 2016
447
Altered Glycolysis and Mitochondrial Respiration in a Zebrafish Model of Dravet Syndrome. 61
27066534 2016
448
Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report. 61
27021235 2016
449
Scn1a dysfunction alters behavior but not the effect of stress on seizure response. 61
26694226 2016
450
Genetics of reflex seizures and epilepsies in humans and animals. 61
26875109 2016
451
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial. 61
26724101 2016
452
[Prognosis of non-symptomatic epilepsy in relation to their age of onset, monitored at a neuropediatric section of regional reference over a period of three years]. 61
26860718 2016
453
Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. 61
26802095 2016
454
Outlining a core neuropsychological phenotype for Dravet syndrome. 61
26808204 2016
455
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 61
26900580 2016
456
Infantile, Childhood, and Adolescent Epilepsies. 61
26844731 2016
457
Δ9-THC Intoxication by Cannabidiol-Enriched Cannabis Extract in Two Children with Refractory Epilepsy: Full Remission after Switching to Purified Cannabidiol. 61
27746737 2016
458
Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices. 61
28036350 2016
459
Disorders of early language development in Dravet syndrome. 61
26630186 2016
460
Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes. 61
26183863 2016
461
Pharmacological considerations in the use of stiripentol for the treatment of epilepsy. 61
26890312 2016
462
Cognitive Deficits Associated with Nav1.1 Alterations: Involvement of Neuronal Firing Dynamics and Oscillations. 61
26978272 2016
463
Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis. 61
27557111 2016
464
Huperzine A Provides Robust and Sustained Protection against Induced Seizures in Scn1a Mutant Mice. 61
27799911 2016
465
Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations. 61
26656780 2016
466
The possible use of the L-type calcium channel antagonist verapamil in drug-resistant epilepsy. 61
26567612 2016
467
Neonatal and Infantile Epilepsy: Acquired and Genetic Models. 61
26637437 2015
468
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy. 61
26613940 2015
469
Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy. 61
26339958 2015
470
Incidence of Dravet Syndrome in a US Population. 61
26933548 2015
471
[De novo SCN1A gene deletion in therapy-resistant Dravet syndrome]. 61
26614543 2015
472
Hallucinations and delusions are frequently reported in individuals with Dravet syndrome. 61
26469797 2015
473
Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome. 61
26169758 2015
474
Low-dose fenfluramine in the treatment of neurologic disorders: experience in Dravet syndrome. 61
26600876 2015
475
Vaccinations and Dravet Syndrome. 61
26933542 2015
476
Incidence of Dravet Syndrome in a US Population. 61
26438699 2015
477
Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and Peculiarities. 61
25944474 2015
478
Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures. 61
26311622 2015
479
Stiripentol for focal refractory epilepsy. 61
26488459 2015
480
Antiepileptic drugs for the treatment of infants with severe myoclonic epilepsy. 61
26482210 2015
481
Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications. 61
25843248 2015
482
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome. 61
26096185 2015
483
Effect of vaccinations on seizure risk and disease course in Dravet syndrome. 61
26203087 2015
484
[Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome]. 61
26252084 2015
485
Dissecting the phenotypes of Dravet syndrome by gene deletion. 61
26017580 2015
486
Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics. 61
26122601 2015
487
Treatment of infants with epilepsy: Common practices around the world. 61
25963534 2015
488
A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family. 61
25986186 2015
489
Dravet syndrome in Sweden: a population-based study. 61
25772213 2015
490
Carbamazepine and oxcarbazepine in adult patients with Dravet syndrome: Friend or foe? 61
26076853 2015
491
Large-Scale Phenotype-Based Antiepileptic Drug Screening in a Zebrafish Model of Dravet Syndrome 61
26465006 2015
492
Long-term safety and efficacy of stiripentol for the treatment of Dravet syndrome: A multicenter, open-label study in Japan. 61
25986195 2015
493
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. 61
25795284 2015
494
Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies. 61
25968935 2015
495
Dravet syndrome in Sweden. 61
25731594 2015
496
The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders. 61
26050032 2015
497
Autism and behavior in adult patients with Dravet syndrome (DS). 61
26005841 2015
498
Seizure precipitants in Dravet syndrome: What events and activities are specifically provocative compared with other epilepsies? 61
26021464 2015
499
Electroencephalographic features of patients with SCN1A-positive Dravet syndrome. 61
25459968 2015
500
Genetics of pediatric epilepsy. 61
26022171 2015
501
Perceived efficacy of cannabidiol-enriched cannabis extracts for treatment of pediatric epilepsy: A potential role for infantile spasms and Lennox-Gastaut syndrome. 61
25935511 2015
502
Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development. 61
25725421 2015
503
Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome. 61
25885068 2015
504
Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome. 61
25766678 2015
505
Pharmacokinetics of clobazam and N-desmethylclobazam in children with dravet syndrome receiving concomitant stiripentol and valproic Acid. 61
25503589 2015
506
The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009. 61
25778844 2015
507
Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies: first experiences. 61
25730374 2015
508
Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy. 61
25510386 2015
509
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. 61
25690317 2015
510
Ictal ontogeny in Dravet syndrome. 61
25046982 2015
511
The European patient with Dravet syndrome: results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome. 61
25666511 2015
512
Lamotrigine can be beneficial in patients with Dravet syndrome. 61
25243660 2015
513
[Dravet syndrome and mitochondrial disease, are they comorbid pathologies?]. 61
25624091 2015
514
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome. 61
25445412 2015
515
Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome. 61
24819914 2015
516
Dravet syndrome, lamotrigine, and personalized medicine. 61
25489635 2015
517
Seizure-related autonomic changes in children. 61
25647767 2015
518
A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit? 61
25569746 2015
519
Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance. 61
25204757 2015
520
Simultaneous Electroencephalography and Functional Magnetic Resonance Imaging and the Identification of Epileptic Networks in Children. 61
26744634 2015
521
Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy. 61
25732146 2015
522
From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit. 61
26188943 2015
523
Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome. 61
25281316 2015
524
[Dramatic seizure reduction with levetiracetam in adult Dravet syndrome: a case report]. 61
25786750 2015
525
Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome? 61
25524840 2015
526
A prospective longitudinal study on visuo-cognitive development in Dravet syndrome: Is there a "dorsal stream vulnerability"? 61
25524843 2015
527
Efficacy and tolerability of the ketogenic diet in Dravet syndrome - Comparison with various standard antiepileptic drug regimen. 61
25524846 2015
528
Pharmacological characterization of an antisense knockdown zebrafish model of Dravet syndrome: inhibition of epileptic seizures by the serotonin agonist fenfluramine. 61
25965391 2015
529
Activity of drugs and components of natural origin in the severe myoclonic epilepsy of infancy (Dravet syndrome). 61
25924876 2015
530
Cognitive characterization of children with Dravet syndrome: A neurodevelopmental perspective. 61
25270117 2015
531
PRRT2 mutations are related to febrile seizures in epileptic patients. 61
25522171 2014
532
[Dravet syndrome and mitochondrial disease, are they comorbid pathologies?]. 61
25342058 2014
533
[Clinical features and genome-wide copy number variation analysis in 60 children with early-onset epileptic encephalopathies of unknown cause]. 61
25406551 2014
534
Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals. 61
25312340 2014
535
Three siblings with multiform seizures: An unusual presentation of Doose syndrome. 61
26133327 2014
536
"It was the interneuron with the parvalbumin in the hippocampus!" "no, it was the pyramidal cell with the glutamate in the cortex!" searching for clues to the mechanism of dravet syndrome - the plot thickens. 61
25678872 2014
537
Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report. 61
25874779 2014
538
A physiologically based pharmacokinetic model for Valproic acid in adults and children. 61
25010262 2014
539
Epileptic encephalopathies: new genes and new pathways. 61
25266964 2014
540
Etiologies for seizures around the time of vaccination. 61
25225143 2014
541
Vagus nerve stimulation for drug-resistant epilepsy: a European long-term study up to 24 months in 347 children. 61
25231724 2014
542
[Complex febrile Seizures or Dravet syndrome?: Description of 3 case reports]. 61
25697436 2014
543
Brain morphometry of Dravet syndrome. 61
25048308 2014
544
Tau reduction prevents disease in a mouse model of Dravet syndrome. 61
25042160 2014
545
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 61
24874546 2014
546
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations. 61
24168886 2014
547
Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings. 61
24814476 2014
548
Cannabidiol: promise and pitfalls. 61
25346628 2014
549
Actual insights into the clinical management of febrile seizures. 61
24477659 2014
550
Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance. 61
24704313 2014
551
Transition to adult life in the monogenic epilepsies. 61
25209079 2014
552
Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current. 61
24805083 2014
553
Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome. 61
25024183 2014
554
Should we still consider Dravet syndrome an epileptic encephalopathy? 61
24892752 2014
555
Co-occurring malformations of cortical development and SCN1A gene mutations. 61
24902755 2014
556
Dravet syndrome--from epileptic encephalopathy to channelopathy. 61
24836964 2014
557
Reassessment of stiripentol pharmacokinetics in healthy adult volunteers. 61
24725808 2014
558
The case for medical marijuana in epilepsy. 61
24854149 2014
559
A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding. 61
24464349 2014
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Terminology and prognosis of Dravet syndrome. 61
24924644 2014
561
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 61
24747641 2014
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In response to terminology and prognosis of Dravet syndrome. 61
24924645 2014
563
Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome. 61
24850485 2014
564
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. 61
24747835 2014
565
When is a child with status epilepticus likely to have Dravet syndrome? 61
24679980 2014
566
Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice. 61
24434335 2014
567
Evaluation of health-care utilization in patients with Dravet syndrome and on adjunctive treatment with stiripentol and clobazam. 61
24727467 2014
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Sleep abnormalities in children with Dravet syndrome. 61
24656210 2014
569
Effectiveness of add-on stiripentol to clobazam and valproate in Japanese patients with Dravet syndrome: additional supportive evidence. 61
24630050 2014
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Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies. 61
24114605 2014
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[Dietary therapy of epilepsy]. 61
24912289 2014
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[New antiepileptic drugs: characteristics and clinical applications]. 61
24912297 2014
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The challenges and innovations for therapy in children with epilepsy. 61
24709890 2014
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Comment: Dravet syndrome--"old gene," novel mechanism. 61
24623837 2014
575
Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. 61
24502503 2014
576
Occipital seizures induced by intermittent photic stimulation in Dravet syndrome. 61
24472396 2014
577
Untangling the dravet syndrome seizure network: the changing face of a rare genetic epilepsy. 61
24872787 2014
578
[Dravet syndrome is a rare genetic epileptic disorder that can be mistaken for fever cramps]. 61
25350058 2014
579
Confirming an expanded spectrum of SCN2A mutations: a case series. 61
24659627 2014
580
Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy. 61
24480790 2014
581
Vaccination and occurrence of seizures in SCN1A mutation-positive patients: a multicenter Italian study. 61
24405698 2014
582
Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus. 61
24257433 2014
583
Mapping genetic modifiers of survival in a mouse model of Dravet syndrome. 61
24152123 2014
584
Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome. 61
24412860 2014
585
Purinergic control of hippocampal circuit hyperexcitability in Dravet syndrome. 61
24417577 2014
586
Lori O'Driscoll founder of the Dravet Syndrome Foundation. 61
24417630 2014
587
Stiripentol for dravet syndrome: is it worth it? 61
24526870 2014
588
Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. 61
24328833 2014
589
The more, the better: modeling dravet syndrome with induced pluripotent stem cell-derived neurons. 61
24526875 2014
590
Seizure Reduction with Fluoxetine in Dravet Syndrome. 61
24955329 2014
591
The multiple faces of Dravet syndrome. 61
24328832 2014
592
Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy. 61
25194483 2014
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[Fragile from an early age: osteoporosis in a child with multiple severe disabilities]. 61
25406819 2014
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Sodium channels, inherited epilepsy, and antiepileptic drugs. 61
24392695 2014
595
Mechanisms underlying epilepsies associated with sodium channel mutations. 61
25194485 2014
596
Efficacy of verapamil as an adjunctive treatment in children with drug-resistant epilepsy: a pilot study. 61
24113539 2014
597
Stiripentol for focal refractory epilepsy. 61
24488598 2014
598
Report of a parent survey of cannabidiol-enriched cannabis use in pediatric treatment-resistant epilepsy. 61
24237632 2013
599
Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation. 61
24277604 2013
600
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. 61
23922229 2013
601
Sudden unexpected death in dravet syndrome. 61
24348122 2013
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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 61
24207121 2013
603
Sudden unexpected death in Dravet syndrome: respiratory and other physiological dysfunctions. 61
23850567 2013
604
Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome. 61
23965409 2013
605
Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons. 61
23773995 2013
606
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy. 61
24225340 2013
607
Antiepileptic drugs for the treatment of severe myoclonic epilepsy in infancy. 61
24254932 2013
608
Genetic epileptic encephalopathies: is all written into the DNA? 61
24571113 2013
609
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene. 61
23999105 2013
610
Transition and transfer from pediatric to adult health care in epilepsy: a families' survey on Dravet syndrome. 61
23973640 2013
611
Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome. 61
23916143 2013
612
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 61
23808377 2013
613
Stiripentol in Dravet syndrome: results of a retrospective U.S. study. 61
23848835 2013
614
Clinical analysis of catastrophic epilepsy in infancy and early childhood: results of the Far-East Asia Catastrophic Epilepsy (FACE) study group. 61
23489890 2013
615
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. 61
23895530 2013
616
Cognitive decline in Dravet syndrome: is there a cerebellar role? 61
23642572 2013
617
The SCN1A gene variants and epileptic encephalopathies. 61
23884151 2013
618
Drosophila as a model for intractable epilepsy: gilgamesh suppresses seizures in para(bss1) heterozygote flies. 61
23797108 2013
619
The ketogenic diet in Dravet syndrome. 61
23653425 2013
620
Musicogenic seizures in Dravet syndrome. 61
23517304 2013
621
Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. 61
23821540 2013
622
Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome. 61
23663038 2013
623
Effects of an epilepsy-causing mutation in the SCN1A sodium channel gene on cocaine-induced seizure susceptibility in mice. 61
23494229 2013
624
Simultaneous EEG and fMRI recordings (EEG-fMRI) in children with epilepsy. 61
23647021 2013
625
Focal Scn1a knockdown induces cognitive impairment without seizures. 61
23318929 2013
626
Human herpesvirus 6-associated encephalopathy in a child with Dravet syndrome. 61
23034800 2013
627
QT and P wave dispersion and heart rate variability in patients with Dravet syndrome. 61
23065439 2013
628
Molecular aspects of Dravet syndrome patients in Taiwan. 61
23485646 2013
629
Synergistic GABA-enhancing therapy against seizures in a mouse model of Dravet syndrome. 61
23424217 2013
630
A human Dravet syndrome model from patient induced pluripotent stem cells. 61
23639079 2013
631
Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome. 61
23398550 2013
632
SCN1A testing for epilepsy: application in clinical practice. 61
23586701 2013
633
[Prospective multicenter study on long-term ketogenic diet therapy for intractable childhood epilepsy]. 61
23927801 2013
634
Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+). 61
23311867 2013
635
Stiripentol is anticonvulsant by potentiating GABAergic transmission in a model of benzodiazepine-refractory status epilepticus. 61
23168114 2013
636
Sudden death in epilepsy: of mice and men. 61
23524959 2013
637
A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey. 61
25206388 2013
638
Sudden unexpected death in a mouse model of Dravet syndrome. 61
23524966 2013
639
SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome. 61
23653348 2013
640
Cognitive and social impairment in mouse models mirrors dravet syndrome. 61
23646018 2013
641
Treatment of epileptic encephalopathies. 61
23397290 2013
642
Neurogenetic disorders and treatment of associated seizures. 61
23400943 2013
643
Short-term efficacy and tolerability of rufinamide adjunctive therapy in children with refractory generalised epilepsy. 61
23531645 2013
644
A revisited strategy for antiepileptic drug development in children: designing an initial exploratory step. 61
23345029 2013
645
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. 61
23163885 2013
646
Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation. 61
23069679 2013
647
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. 61
23103419 2013
648
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. 61
23334464 2013
649
Dravet syndrome, what is new? 61
23291792 2013
650
Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment. 61
22986304 2013
651
Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome. 61
24155976 2013
652
Dravet syndrome (severe myoclonic epilepsy in infancy). 61
23622210 2013
653
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. 61
23762420 2013
654
Do mutations in SCN1B cause Dravet syndrome? 61
23182416 2013
655
Seizure control in a patient with Dravet syndrome and cystic fibrosis. 61
25667824 2013
656
Ketogenic diet: an early option for epilepsy treatment, instead of a last choice only. 61
23515149 2013
657
An electroclinical study of absence seizures in Dravet syndrome. 61
22824327 2013
658
Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment. 61
24002024 2013
659
Sodium Channel Gene Mutations in Children with GEFS+ and Dravet Syndrome: A Cross Sectional Study. 61
24665294 2013
660
Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility. 61
22926190 2013
661
Ketogenic diet in epileptic encephalopathies. 61
23936641 2013
662
Effect of vagus nerve stimulation in an adult patient with Dravet syndrome: contribution to sudden unexpected death in epilepsy risk reduction?. 61
23207687 2013
663
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. 61
23086956 2012
664
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 61
23195492 2012
665
[Genetic and phenotypic characteristics of SCN1A mutations in Dravet syndrome]. 61
23225037 2012
666
A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome. 61
23148524 2012
667
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. 61
23016767 2012
668
Stiripentol : in severe myoclonic epilepsy of infancy (dravet syndrome). 61
23018548 2012
669
The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through. 61
22750526 2012
670
Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. 61
22908258 2012
671
Addressing the needs of patients and their family: conclusion. 61
22695037 2012
672
Stiripentol: an example of antiepileptic drug development in childhood epilepsies. 61
22695038 2012
673
Diagnosis and long-term course of Dravet syndrome. 61
22704920 2012
674
Helping families cope with the devastation of Dravet syndrome. 61
22695036 2012
675
On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation. 61