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:

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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
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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:

(show top 50) (show all 181)
# 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

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 (show top 50) (show all 65)
# 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%)

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
# 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):

(show all 22)
# 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:

(show all 39)
# 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:

(show top 50) (show all 873)
# 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

Variations for Epileptic Encephalopathy, Early Infantile, 6

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 6:

6 (show top 50) (show all 743) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN1A NM_006920.6(SCN1A):c.4960_4963dup (p.Ser1655fs)duplication Pathogenic 189988 rs794726819 2:166848788-166848789 2:165992278-165992279
2 SCN1A NM_006920.6(SCN1A):c.4952C>T (p.Ala1651Val)SNV Pathogenic 190011 rs794726839 2:166848800-166848800 2:165992290-165992290
3 SCN1A NM_006920.6(SCN1A):c.4901G>C (p.Arg1634Pro)SNV Pathogenic 190005 rs121917976 2:166848851-166848851 2:165992341-165992341
4 SCN1A NM_006920.6(SCN1A):c.4900C>T (p.Arg1634Ter)SNV Pathogenic 189921 rs794726759 2:166848852-166848852 2:165992342-165992342
5 SCN1A NM_006920.6(SCN1A):c.4873C>T (p.Arg1625Ter)SNV Pathogenic 189870 rs199727342 2:166848879-166848879 2:165992369-165992369
6 SCN1A NM_006920.6(SCN1A):c.4846_4850dup (p.Tyr1617Ter)duplication Pathogenic 189849 rs794726701 2:166848901-166848902 2:165992391-165992392
7 SCN1A NM_006920.6(SCN1A):c.4794_4795TG[3] (p.Val1600fs)short repeat Pathogenic 190025 rs794726850 2:166850677-166850678 2:165994167-165994168
8 SCN1A NM_006920.6(SCN1A):c.4790del (p.Asp1597fs)deletion Pathogenic 189948 rs794726785 2:166850685-166850685 2:165994175-165994175
9 SCN1A NM_006920.6(SCN1A):c.4778G>A (p.Trp1593Ter)SNV Pathogenic 189964 rs794726800 2:166850697-166850697 2:165994187-165994187
10 SCN1A NM_006920.6(SCN1A):c.4733T>G (p.Val1578Gly)SNV Pathogenic 189998 rs764037830 2:166850742-166850742 2:165994232-165994232
11 SCN1A NM_006920.6(SCN1A):c.4578_4612dup (p.Ile1538delinsThrTer)duplication Pathogenic 189918 rs794726757 2:166850862-166850863 2:165994352-165994353
12 SCN1A NM_006920.6(SCN1A):c.4540C>T (p.Arg1514Ter)SNV Pathogenic 189911 rs794726752 2:166852531-166852531 2:165996021-165996021
13 SCN1A NM_006920.6(SCN1A):c.4521del (p.Lys1507fs)deletion Pathogenic 189994 rs794726825 2:166852550-166852550 2:165996040-165996040
14 SCN1A NM_006920.6(SCN1A):c.4516A>T (p.Lys1506Ter)SNV Pathogenic 190007 rs794726835 2:166852555-166852555 2:165996045-165996045
15 SCN1A NM_006920.6(SCN1A):c.4514C>G (p.Ser1505Trp)SNV Pathogenic 189923 rs139300715 2:166852557-166852557 2:165996047-165996047
16 SCN1A NM_006920.6(SCN1A):c.4379C>T (p.Ser1460Phe)SNV Pathogenic 189976 rs794726809 2:166854612-166854612 2:165998102-165998102
17 SCN1A NM_006920.6(SCN1A):c.4318C>A (p.Pro1440Thr)SNV Pathogenic 189843 rs794726696 2:166854673-166854673 2:165998163-165998163
18 SCN1A NM_006920.6(SCN1A):c.4305+4A>CSNV Pathogenic 189890 rs794726734 2:166856229-166856229 2:165999719-165999719
19 SCN1A NM_006920.6(SCN1A):c.4269G>A (p.Trp1423Ter)SNV Pathogenic 189846 rs794726699 2:166856269-166856269 2:165999759-165999759
20 SCN1A NM_006920.6(SCN1A):c.4211_4212del (p.Asn1403_Phe1404insTer)deletion Pathogenic 189854 rs794726705 2:166859021-166859022 2:166002511-166002512
21 SCN1A NM_006920.6(SCN1A):c.4190G>A (p.Trp1397Ter)SNV Pathogenic 189947 rs794726784 2:166859043-166859043 2:166002533-166002533
22 SCN1A NM_006920.6(SCN1A):c.4155C>A (p.Cys1385Ter)SNV Pathogenic 189903 rs794726745 2:166859078-166859078 2:166002568-166002568
23 SCN1A NM_006920.6(SCN1A):c.4135G>C (p.Val1379Leu)SNV Pathogenic 190014 rs121917986 2:166859098-166859098 2:166002588-166002588
24 SCN1A NM_006920.6(SCN1A):c.4055T>A (p.Ile1352Asn)SNV Pathogenic 189856 rs794726707 2:166859178-166859178 2:166002668-166002668
25 SCN1A NM_006920.6(SCN1A):c.4053C>G (p.Ser1351Arg)SNV Pathogenic 189942 rs794726779 2:166859180-166859180 2:166002670-166002670
26 SCN1A NM_006920.6(SCN1A):c.4022T>C (p.Leu1341Pro)SNV Pathogenic 189990 rs794726821 2:166859211-166859211 2:166002701-166002701
27 SCN1A NM_006920.6(SCN1A):c.4011G>A (p.Met1337Ile)SNV Pathogenic 189991 rs794726822 2:166859222-166859222 2:166002712-166002712
28 SCN1A NM_006920.6(SCN1A):c.3983C>T (p.Ala1328Val)SNV Pathogenic 189952 rs794726789 2:166859250-166859250 2:166002740-166002740
29 SCN1A NM_006920.6(SCN1A):c.3935_3936CT[3] (p.Leu1313_Arg1314insTer)short repeat Pathogenic 189877 rs794726723 2:166866259-166866260 2:166009749-166009750
30 SCN1A NM_006920.6(SCN1A):c.3866C>G (p.Thr1289Arg)SNV Pathogenic 189968 rs146878122 2:166866332-166866332 2:166009822-166009822
31 SCN1A NM_006920.6(SCN1A):c.3847-2A>GSNV Pathogenic 189985 rs794726816 2:166866353-166866353 2:166009843-166009843
32 SCN1A NM_006920.6(SCN1A):c.3846+1G>TSNV Pathogenic 189847 rs794726700 2:166868618-166868618 2:166012108-166012108
33 SCN1A NM_006920.6(SCN1A):c.3825G>A (p.Trp1275Ter)SNV Pathogenic 190029 rs794726853 2:166868640-166868640 2:166012130-166012130
34 SCN1A NM_006920.6(SCN1A):c.3795T>A (p.Tyr1265Ter)SNV Pathogenic 189887 rs794726731 2:166868670-166868670 2:166012160-166012160
35 SCN1A NM_006920.6(SCN1A):c.3788A>C (p.Tyr1263Ser)SNV Pathogenic 190028 rs794726852 2:166868677-166868677 2:166012167-166012167
36 SCN1A NM_006920.6(SCN1A):c.5747G>C (p.Arg1916Thr)SNV Pathogenic 189893 rs794726737 2:166848005-166848005 2:165991495-165991495
37 SCN1A NM_006920.6(SCN1A):c.5641C>T (p.Arg1881Ter)SNV Pathogenic 189896 rs794726739 2:166848111-166848111 2:165991601-165991601
38 SCN1A NM_006920.6(SCN1A):c.5629C>T (p.Gln1877Ter)SNV Pathogenic 190019 rs794726845 2:166848123-166848123 2:165991613-165991613
39 SCN1A NM_006920.6(SCN1A):c.5623C>T (p.Arg1875Ter)SNV Pathogenic 189912 rs779614747 2:166848129-166848129 2:165991619-165991619
40 SCN1A NM_006920.6(SCN1A):c.5499_5502AAAC[1] (p.Lys1835fs)short repeat Pathogenic 189881 rs794726726 2:166848246-166848249 2:165991736-165991739
41 SCN1A NM_006920.6(SCN1A):c.5503A>T (p.Lys1835Ter)SNV Pathogenic 189859 rs372098964 2:166848249-166848249 2:165991739-165991739
42 SCN1A NM_006920.6(SCN1A):c.5482C>G (p.Leu1828Val)SNV Pathogenic 189965 rs794726801 2:166848270-166848270 2:165991760-165991760
43 SCN1A NM_006920.6(SCN1A):c.5437G>T (p.Glu1813Ter)SNV Pathogenic 189932 rs794726769 2:166848315-166848315 2:165991805-165991805
44 SCN1A NM_006920.6(SCN1A):c.5428C>T (p.Gln1810Ter)SNV Pathogenic 189944 rs794726781 2:166848324-166848324 2:165991814-165991814
45 SCN1A NM_006920.6(SCN1A):c.5371G>T (p.Glu1791Ter)SNV Pathogenic 189943 rs794726780 2:166848381-166848381 2:165991871-165991871
46 SCN1A NM_006920.6(SCN1A):c.5316_5319dup (p.Ile1774fs)duplication Pathogenic 189898 rs794726741 2:166848432-166848433 2:165991922-165991923
47 SCN1A NM_006920.6(SCN1A):c.5301del (p.Asn1768fs)deletion Pathogenic 189946 rs794726783 2:166848451-166848451 2:165991941-165991941
48 SCN1A NM_006920.6(SCN1A):c.5264_5265del (p.Phe1755fs)deletion Pathogenic 190003 rs794726832 2:166848487-166848488 2:165991977-165991978
49 SCN1A NM_006920.6(SCN1A):c.5251_5258dup (p.Phe1753fs)duplication Pathogenic 189983 rs794726814 2:166848493-166848494 2:165991983-165991984
50 SCN1A NM_006920.6(SCN1A):c.5231A>G (p.Asp1744Gly)SNV Pathogenic 189876 rs794726722 2:166848521-166848521 2:165992011-165992011

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 6:

73 (show top 50) (show all 335)
# Symbol AA change Variation ID SNP ID
1 SCN1A p.Thr875Met VAR_010110 rs121918623
2 SCN1A p.Arg1648His VAR_010111 rs121918622
3 SCN1A p.Leu986Phe VAR_014268 rs121918625
4 SCN1A p.Glu78Asp VAR_029660 rs121917933
5 SCN1A p.Arg101Gln VAR_029661 rs121917918
6 SCN1A p.Ser103Gly VAR_029662 rs121918743
7 SCN1A p.Thr112Ile VAR_029663 rs121918745
8 SCN1A p.Gly177Glu VAR_029664 rs121918770
9 SCN1A p.Trp190Arg VAR_029665 rs121918773
10 SCN1A p.Ile227Ser VAR_029666 rs121917937
11 SCN1A p.Ile252Asn VAR_029667 rs121918780
12 SCN1A p.Gly265Trp VAR_029668 rs121918749
13 SCN1A p.Trp280Arg VAR_029669 rs121917938
14 SCN1A p.Thr297Ile VAR_029670 rs121918771
15 SCN1A p.Gly343Asp VAR_029671 rs121918753
16 SCN1A p.Arg393His VAR_029672 rs121917927
17 SCN1A p.Tyr426Asn VAR_029673 rs121917940
18 SCN1A p.Thr808Ser VAR_029676 rs121918758
19 SCN1A p.Phe902Cys VAR_029677 rs121918787
20 SCN1A p.Arg931Cys VAR_029678 rs121918788
21 SCN1A p.Met934Ile VAR_029679 rs121918774
22 SCN1A p.His939Gln VAR_029680 rs121918795
23 SCN1A p.Val944Ala VAR_029681 rs121917969
24 SCN1A p.Arg946Cys VAR_029682 rs121918775
25 SCN1A p.Arg946His VAR_029683 rs121917971
26 SCN1A p.Cys959Arg VAR_029684 rs121918796
27 SCN1A p.Met960Val VAR_029685 rs121918750
28 SCN1A p.Gly979Arg VAR_029686 rs121918754
29 SCN1A p.Val983Ala VAR_029687 rs121918756
30 SCN1A p.Asn985Ile VAR_029688 rs121918747
31 SCN1A p.Asn1011Ile VAR_029689 rs121918759
32 SCN1A p.Ser1231Arg VAR_029692 rs121918746
33 SCN1A p.Gly1233Arg VAR_029693 rs121917911
34 SCN1A p.Phe1263Leu VAR_029694 rs121918752
35 SCN1A p.Leu1265Pro VAR_029695 rs121918794
36 SCN1A p.Leu1355Pro VAR_029697 rs121918776
37 SCN1A p.Ala1326Pro VAR_029698 rs121918803
38 SCN1A p.Val1390Met VAR_029699 rs121917986
39 SCN1A p.Trp1434Arg VAR_029701 rs121918789
40 SCN1A p.Gln1450Arg VAR_029702 rs121918790
41 SCN1A p.Leu1461Ile VAR_029703 rs121918772
42 SCN1A p.Phe1463Ser VAR_029704 rs121917946
43 SCN1A p.Val1611Phe VAR_029706 rs121918630
44 SCN1A p.Pro1632Ser VAR_029707 rs121918755
45 SCN1A p.Arg1648Cys VAR_029708 rs121918791
46 SCN1A p.Phe1661Ser VAR_029710 rs121918797
47 SCN1A p.Pro1668Ala VAR_029711 rs121917948
48 SCN1A p.Gly1674Arg VAR_029712 rs121918792
49 SCN1A p.Tyr1694Cys VAR_029713 rs121918777
50 SCN1A p.Ala1685Asp VAR_029714 rs121918744

Copy number variations for Epileptic Encephalopathy, Early Infantile, 6 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 138448 2 163500000 169500000 Translocation SCN1A severe myoclonic epilepsy of infancy
2 138574 2 166553915 166638395 Copy number SCN1A Dravet syndrome
3 196155 5 159900000 167400000 Translocation severe myoclonic epilepsy of infancy

Expression for Epileptic Encephalopathy, Early Infantile, 6

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 6.

Pathways for Epileptic Encephalopathy, Early Infantile, 6

Pathways related to Epileptic Encephalopathy, Early Infantile, 6 according to KEGG:

36
# Name Kegg Source Accession
1 Dopaminergic synapse hsa04728

Pathways related to Epileptic Encephalopathy, Early Infantile, 6 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
2
Show member pathways
12.9 KCNT1 GABRG2 GABRD GABRB3 GABRA1 CDKL5
3
Show member pathways
12.86 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
4
Show member pathways
12.83 STXBP1 KCNQ3 KCNQ2 KCNA1 GABRG2 GABRB3
5
Show member pathways
12.68 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
6
Show member pathways
12.5 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
7 12.4 STXBP1 SCN9A SCN8A SCN2A SCN1B SCN1A
8
Show member pathways
12.38 GABRG2 GABRD GABRB3 GABRA1
9
Show member pathways
12.27 GABRG2 GABRD GABRB3 GABRA1
10
Show member pathways
11.89 GABRG2 GABRB3 GABRA1
11
Show member pathways
11.85 SCN9A SCN3A SCN2A GABRA1
12
Show member pathways
11.65 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
13
Show member pathways
11.51 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
14 11.31 GABRG2 GABRD GABRB3 GABRA1
15
Show member pathways
11.29 GABRG2 GABRB3 GABRA1
16
Show member pathways
10.81 GABRG2 GABRA1
17 10.79 GABRG2 GABRD GABRB3 GABRA1
18 10.7 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A

GO Terms for Epileptic Encephalopathy, Early Infantile, 6

Cellular components related to Epileptic Encephalopathy, Early Infantile, 6 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.45 STXBP1 SNX27 SCN9A SCN8A SCN3A SCN2A
2 integral component of membrane GO:0016021 10.36 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
3 plasma membrane GO:0005886 10.25 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
4 cell projection GO:0042995 10.08 SCN9A SCN8A SCN1B KCNA1 GABRG2 CDKL5
5 cell junction GO:0030054 10.04 SCN8A KCNA1 GABRG2 GABRD GABRB3 GABRA1
6 synapse GO:0045202 10.03 KCNQ3 KCNQ2 KCNA1 GABRG2 GABRD GABRB3
7 integral component of plasma membrane GO:0005887 10.03 SCN9A SCN2A SCN1B PCDH19 PCDH10 KCNQ3
8 glutamatergic synapse GO:0098978 9.96 STXBP1 SCN2A KCNA1 GABRD CDKL5
9 postsynaptic membrane GO:0045211 9.88 GABRG2 GABRD GABRB3 GABRA1
10 axon GO:0030424 9.85 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
11 GABA-ergic synapse GO:0098982 9.83 GABRG2 GABRD GABRB3 GABRA1
12 postsynapse GO:0098794 9.78 STXBP1 GABRG2 GABRA1
13 chloride channel complex GO:0034707 9.78 GABRG2 GABRD GABRB3 GABRA1
14 voltage-gated potassium channel complex GO:0008076 9.75 KCNQ3 KCNQ2 KCNA1
15 intercalated disc GO:0014704 9.72 SCN2A SCN1B SCN1A
16 T-tubule GO:0030315 9.71 SCN2A SCN1B SCN1A
17 GABA-A receptor complex GO:1902711 9.69 GABRG2 GABRB3 GABRA1
18 axon initial segment GO:0043194 9.67 SCN8A SCN1A KCNQ3 KCNQ2
19 paranode region of axon GO:0033270 9.59 SCN2A KCNA1
20 sodium channel complex GO:0034706 9.58 SCN2A SCN1B SCN1A
21 voltage-gated sodium channel complex GO:0001518 9.43 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
22 node of Ranvier GO:0033268 9.1 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

Biological processes related to Epileptic Encephalopathy, Early Infantile, 6 according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.08 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ3
2 chemical synaptic transmission GO:0007268 9.98 KCNQ3 KCNQ2 KCNA1 GABRG2 GABRD GABRB3
3 sodium ion transport GO:0006814 9.93 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
4 ion transmembrane transport GO:0034220 9.91 SCN9A SCN8A SCN3A SCN2A SCN1A GABRG2
5 potassium ion transport GO:0006813 9.88 KCNT1 KCNQ3 KCNQ2 KCNA1
6 potassium ion transmembrane transport GO:0071805 9.88 KCNT1 KCNQ3 KCNQ2 KCNA1
7 regulation of membrane potential GO:0042391 9.88 SCN1A KCNA1 GABRG2 GABRD GABRB3 GABRA1
8 chloride transmembrane transport GO:1902476 9.86 GABRG2 GABRD GABRB3 GABRA1
9 chloride transport GO:0006821 9.85 GABRG2 GABRD GABRB3 GABRA1
10 sodium ion transmembrane transport GO:0035725 9.85 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
11 regulation of postsynaptic membrane potential GO:0060078 9.84 KCNA1 GABRG2 GABRD GABRA1
12 nervous system process GO:0050877 9.83 GABRG2 GABRD GABRB3 GABRA1
13 gamma-aminobutyric acid signaling pathway GO:0007214 9.74 GABRG2 GABRB3 GABRA1
14 membrane depolarization during action potential GO:0086010 9.72 SCN9A SCN8A SCN3A SCN2A SCN1A
15 inhibitory synapse assembly GO:1904862 9.69 GABRG2 GABRB3 GABRA1
16 cellular response to histamine GO:0071420 9.67 GABRG2 GABRB3 GABRA1
17 neuronal action potential GO:0019228 9.63 SCN9A SCN8A SCN3A SCN2A SCN1A KCNA1
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1B SCN1A
19 synaptic transmission, GABAergic GO:0051932 9.61 GABRG2 GABRA1
20 regulation of ion transmembrane transport GO:0034765 9.61 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
21 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.6 SCN1A KCNA1
22 neuronal action potential propagation GO:0019227 9.59 SCN1B SCN1A
23 ion transport GO:0006811 9.47 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 6 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.78 KCNT1 KCNQ3 KCNQ2 KCNA1
2 chloride channel activity GO:0005254 9.76 GABRG2 GABRD GABRB3 GABRA1
3 sodium channel activity GO:0005272 9.73 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
4 extracellular ligand-gated ion channel activity GO:0005230 9.71 GABRG2 GABRD GABRB3 GABRA1
5 voltage-gated potassium channel activity GO:0005249 9.69 KCNQ3 KCNQ2 KCNA1
6 delayed rectifier potassium channel activity GO:0005251 9.67 KCNQ3 KCNQ2 KCNA1
7 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.67 GABRG2 GABRD GABRB3 GABRA1
8 voltage-gated sodium channel activity GO:0005248 9.63 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
9 GABA-A receptor activity GO:0004890 9.62 GABRG2 GABRD GABRB3 GABRA1
10 GABA-gated chloride ion channel activity GO:0022851 9.61 GABRG2 GABRB3 GABRA1
11 voltage-gated ion channel activity GO:0005244 9.61 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
12 benzodiazepine receptor activity GO:0008503 9.54 GABRG2 GABRA1
13 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.52 GABRG2 GABRA1
14 ion channel activity GO:0005216 9.32 SCN9A SCN8A SCN3A SCN2A SCN1A KCNA1

Sources for Epileptic Encephalopathy, Early Infantile, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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