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EIEE6
MCID: EPL184
MIFTS: 70

Epileptic Encephalopathy, Early Infantile, 6 (EIEE6)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 6

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases Liver diseases Ear diseases Bone diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


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Summaries for Epileptic Encephalopathy, Early Infantile, 6

About this section
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 Strawberry and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are developmental regression and progressive gait ataxia

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 an autosomal... more...

Sources

Related Diseases for Epileptic Encephalopathy, Early Infantile, 6

About this section

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
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
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 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 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 190)
# Related Disease Score Top Affiliating Genes
1 genetic epilepsy with febrile seizures plus 34.0 SCN9A SCN2A SCN1A
2 febrile seizures 33.5 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ2
3 generalized epilepsy with febrile seizures plus, type 2 33.4 SCN9A SCN1B SCN1A GABRG2 GABRD
4 seizure disorder 32.4 SCN2A SCN1A KCNQ2
5 visual epilepsy 32.3 STXBP1 SCN8A SCN2A SCN1B SCN1A KCNQ2
6 encephalopathy 32.3 STXBP1 SCN1A PCDH19 CDKL5
7 status epilepticus 32.2 SCN1A PVALB PCDH19 KCNQ2
8 scn1a seizure disorders 32.1 SCN9A SCN1A
9 myoclonic epilepsy of infancy 32.0 SCN8A SCN1A GABRG2
10 early myoclonic encephalopathy 31.8 STXBP1 SCN8A SCN3A SCN2A SCN1B SCN1A
11 epilepsy 31.7 STXBP1 SNX27 SCN9A SCN8A SCN3A SCN2A
12 generalized epilepsy with febrile seizures plus 31.4 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
13 autism spectrum disorder 31.4 SCN2A SCN1A PCDH19 GABRG2 GABRD GABRB3
14 epilepsy with generalized tonic-clonic seizures 31.3 SCN2A SCN1B SCN1A GABRG2 GABRD GABRA1
15 autism 31.1 STXBP1 SCN8A SCN3A SCN2A SCN1A PCDH19
16 lennox-gastaut syndrome 31.1 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
17 focal epilepsy 30.9 SCN8A SCN3A SCN2A SCN1B SCN1A PVALB
18 generalized epilepsy with febrile seizures plus, type 7 30.9 SCN9A SCN1B SCN1A GABRG2 GABRD
19 epileptic encephalopathy, early infantile, 9 30.9 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
20 seizures, benign familial infantile, 3 30.8 SCN2A KCNQ2
21 brugada syndrome 30.8 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
22 photosensitive epilepsy 30.8 STXBP1 SCN2A SCN1B SCN1A PCDH19 KCNQ3
23 migraine with or without aura 1 30.8 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ3
24 pervasive developmental disorder 30.7 STXBP1 SCN8A SCN2A SCN1A PVALB PCDH19
25 early infantile epileptic encephalopathy 30.7 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
26 benign neonatal seizures 30.7 STXBP1 SCN8A SCN2A SCN1B SCN1A PCDH19
27 west syndrome 30.6 STXBP1 SCN8A SCN3A SCN2A SCN1B SCN1A
28 dystonia 30.6 PVALB KCNQ2 GABRG2 GABRB3 GABRA1
29 epilepsy, idiopathic generalized 30.6 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
30 epileptic encephalopathy, early infantile, 4 30.6 STXBP1 CDKL5
31 childhood absence epilepsy 30.4 STXBP1 SCN8A SCN3A SCN2A SCN1B SCN1A
32 electroclinical syndrome 30.4 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
33 scn1a-related seizure disorders 11.6
34 epileptic encephalopathy, early infantile, 1 10.8 SCN1A KCNQ2 GABRB3
35 febrile seizures, familial, 5 10.7 SCN2A SCN1B SCN1A GABRG2
36 episodic pain syndrome, familial, 2 10.7 SCN9A SCN3A SCN2A SCN1A
37 febrile seizures, familial, 6 10.7 SCN1B SCN1A GABRG2
38 migraine, familial hemiplegic, 3 10.7 SCN9A SCN3A SCN2A SCN1A
39 febrile seizures, familial, 8 10.7 SCN1B SCN1A GABRG2 GABRD
40 progressive familial heart block, type ia 10.7 SCN9A SCN8A SCN3A SCN1A
41 low-grade astrocytoma 10.7 SCN8A SCN3A SCN2A SCN1A
42 febrile seizures, familial, 4 10.7 SCN1B SCN1A GABRG2 GABRD
43 paramyotonia congenita of von eulenburg 10.7 SCN9A SCN2A SCN1B SCN1A
44 trigeminal nerve disease 10.7 SCN9A SCN8A SCN3A SCN1A
45 generalized epilepsy with febrile seizures plus, type 1 10.7 SCN1B SCN1A GABRG2
46 epileptic encephalopathy, early infantile, 13 10.7 SCN8A SCN2A SCN1B SCN1A CDKL5
47 epilepsy, familial temporal lobe, 5 10.7 SCN9A SCN1B SCN1A GABRG2 GABRD
48 neuropathy, hereditary sensory and autonomic, type vii 10.7 SCN3A SCN2A SCN1A
49 febrile seizures, familial, 2 10.7 SCN2A SCN1B SCN1A KCNQ3 GABRG2
50 juvenile absence epilepsy 10.7 SCN1A GABRG2 GABRB3 GABRA1

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



Diseases related to Epileptic Encephalopathy, Early Infantile, 6
Sources

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 6

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

58 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
2 progressive gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007240
3 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
4 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
5 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
6 focal impaired awareness seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002384
7 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
8 cogwheel rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002396
9 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
10 multifocal epileptiform discharges 58 31 frequent (33%) Frequent (79-30%) HP:0010841
11 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
12 obsessive-compulsive trait 58 31 frequent (33%) Frequent (79-30%) HP:0008770
13 atypical absence seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007270
14 facial tics 58 31 frequent (33%) Frequent (79-30%) HP:0011468
15 limited neck range of motion 58 31 frequent (33%) Frequent (79-30%) HP:0000466
16 focal aware seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002349
17 epilepsia partialis continua 58 31 frequent (33%) Frequent (79-30%) HP:0012847
18 photosensitive myoclonic seizure 31 frequent (33%) HP:0001327
19 photosensitive tonic-clonic seizure 31 frequent (33%) HP:0007207
20 focal hemiclonic seizure 31 frequent (33%) HP:0006813
21 generalized clonic seizure 31 frequent (33%) HP:0011169
22 complex febrile seizure 31 frequent (33%) HP:0011172
23 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
24 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
25 tibial torsion 58 31 occasional (7.5%) Occasional (29-5%) HP:0100694
26 impulsivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100710
27 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
28 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
29 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
30 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
31 incoordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0002311
32 pes valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008081
33 global brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002283
34 action tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002345
35 limited knee extension 58 31 occasional (7.5%) Occasional (29-5%) HP:0003066
36 eeg with generalized epileptiform discharges 58 31 occasional (7.5%) Occasional (29-5%) HP:0011198
37 dysgenesis of the hippocampus 58 31 occasional (7.5%) Occasional (29-5%) HP:0025101
38 cyanotic episode 58 31 occasional (7.5%) Occasional (29-5%) HP:0200048
39 status epilepticus without prominent motor symptoms 31 occasional (7.5%) HP:0031475
40 generalized tonic seizure 31 very rare (1%) HP:0010818
41 global developmental delay 31 HP:0001263
42 ataxia 31 HP:0001251
43 generalized myoclonic seizures 58 Frequent (79-30%)
44 motor delay 31 HP:0001270
45 mental deterioration 31 HP:0001268
46 rigidity 58 Frequent (79-30%)
47 status epilepticus 31 HP:0002133
48 cerebral atrophy 31 HP:0002059
49 postnatal microcephaly 31 HP:0005484
50 focal-onset seizure 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
mental deterioration
status epilepticus
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 10.3 CDKL5 GABRA1 GABRB3 GABRD GABRG2 KCNQ2
2 mortality/aging MP:0010768 10.16 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 KCNQ3
3 growth/size/body region MP:0005378 10.13 GABRA1 GABRB3 GABRG2 KCNQ2 KCNQ3 PCDH10
4 nervous system MP:0003631 10.11 CDKL5 GABRA1 GABRB3 GABRD GABRG2 GPR55
5 no phenotypic analysis MP:0003012 9.5 CDKL5 GABRA1 GABRB3 PVALB SCN1B SCN3A
6 normal MP:0002873 9.32 GABRA1 GABRB3 GABRG2 GPR55 KCNT1 PVALB
Sources

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 6

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

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

Interventional clinical trials:

(show all 42)
# 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 An Open-Label Study to Investigate the Safety and Pharmacokinetics of Single Ascending Doses of Antisense Oligonucleotide STK-001 in Children and Adolescents With Dravet Syndrome Recruiting NCT04442295 Phase 1, Phase 2 STK-001
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 Use of Cannabidiol (CBD) Oil in the Treatment of PTSD: A Placebo-Controlled Randomized Clinical Trial Recruiting NCT04197102 Phase 2 Cannabidiol (CBD) oil
21 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
22 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
23 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 Active, not recruiting NCT03650452 Phase 2 TAK-935;Placebo
24 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
25 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 Completed NCT04069689 Phase 1 EPX-100 (Clemizole Hydrochloride);Placebos
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 Completed NCT02286986 Phase 1 Cannabidiol
27 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
28 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
29 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Approved for marketing NCT01983722 Stiripentol
30 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
31 Cardiac Arrhythmias in Dravet Syndrome: an Observational, International, Multicentre Study Completed NCT02415686
32 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285
33 Neuronal Excitability of Hyperpolarization-activated Cyclic Nucleotide-gated (HCN1) Channel Mutations in Dravet Syndrome Recruiting NCT02896608
34 Treatment of Gait Disorders in Children With Dravet Syndrome Active, not recruiting NCT03857451
35 Treatment of Dravet Syndrome With Fenfluramine (Expanded Access Protocol) Available NCT04437004 Fenfluramine
36 ZX008 Expanded Access Protocol - Dravet Syndrome Treatment Plan Available NCT03780127 Fenfluramine Hydrochloride
37 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919
38 Compassionate Use of Stiripentol in Intractable Epilepsy Due to Dravet Syndrome No longer available NCT01533506 stiripentol
39 Compassionate Use of Stiripentol in Dravet Syndrome No longer available NCT01835314 Stiripentol
40 Expanded Access Use of Stiripentol in Participants With Dravet Syndrome or Epileptic Encephalopathies Associated With Sodium Channel Mutations No longer available NCT02239276 Stiripentol
41 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297
42 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680

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

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Genetic Tests for Epileptic Encephalopathy, Early Infantile, 6

About this section

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
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Anatomical Context for Epileptic Encephalopathy, Early Infantile, 6

About this section

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

40
Brain, Testes, Heart, Cortex, Skeletal Muscle, Skin, Subthalamic Nucleus
Sources

Publications for Epileptic Encephalopathy, Early Infantile, 6

About this section

Articles related to Epileptic Encephalopathy, Early Infantile, 6:

(show top 50) (show all 924)
# 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. 6 56
21555645 2011
3
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. 6 56
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. 61 54 56
20522430 2010
8
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 61 54 56
19589774 2010
9
Parental SCN1A mutation mosaicism in familial Dravet syndrome. 56 54 61
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. 56 61 54
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 6 61
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. 52 61
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. 61 54
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. 61 54
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. 61 54
19702726 2009
Sources

Variations for Epileptic Encephalopathy, Early Infantile, 6

About this section

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

6 (show top 50) (show all 804) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN1A NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)SNV Pathogenic 448252 rs368609628 2:166872171-166872171 2:166015661-166015661
2 SNX27 NM_001330723.2(SNX27):c.1356dup (p.Leu453fs)duplication Pathogenic 462810 rs1553266166 1:151665024-151665025 1:151692548-151692549
3 SCN1A NM_001165963.4(SCN1A):c.126del (p.Asp43fs)deletion Pathogenic 496115 rs1553560831 2:166930006-166930006 2:166073496-166073496
4 SNX27 NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter)SNV Pathogenic 531722 rs201966711 1:151655900-151655900 1:151683424-151683424
5 SCN1A NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)SNV Pathogenic 579916 rs1559149128 2:166870348-166870348 2:166013838-166013838
6 SNX27 NM_001330723.2(SNX27):c.265dup (p.Ala89fs)duplication Pathogenic 644220 1:151584935-151584936 1:151612459-151612460
7 SCN1A NM_006920.6(SCN1A):c.5184del (p.Asp1729fs)deletion Pathogenic 801790 2:166848568-166848568 2:165992058-165992058
8 SCN1A NM_006920.6(SCN1A):c.4671T>A (p.Tyr1557Ter)SNV Pathogenic 801792 2:166850804-166850804 2:165994294-165994294
9 SCN1A NM_006920.6(SCN1A):c.4506dup (p.Leu1503fs)duplication Pathogenic 801793 2:166852564-166852565 2:165996054-165996055
10 SCN1A NM_006920.6(SCN1A):c.3970-1G>ASNV Pathogenic 801797 2:166859264-166859264 2:166002754-166002754
11 SCN1A NM_006920.6(SCN1A):c.3724_3730dup (p.Ala1244fs)duplication Pathogenic 801799 2:166868734-166868735 2:166012224-166012225
12 SCN1A NM_006920.6(SCN1A):c.3498_3501dup (p.Ala1168fs)duplication Pathogenic 801800 2:166872132-166872133 2:166015622-166015623
13 SCN1A NM_006920.6(SCN1A):c.3278C>G (p.Ser1093Ter)SNV Pathogenic 801802 2:166892676-166892676 2:166036166-166036166
14 SCN1A NM_006920.6(SCN1A):c.2658G>T (p.Leu886Phe)SNV Pathogenic 801803 2:166894541-166894541 2:166038031-166038031
15 SCN1A NM_006920.6(SCN1A):c.2382+1G>ASNV Pathogenic 801805 2:166897740-166897740 2:166041230-166041230
16 SCN1A NM_006920.6(SCN1A):c.2114_2117del (p.Ile705fs)deletion Pathogenic 801807 2:166898828-166898831 2:166042318-166042321
17 SCN1A NM_006920.6(SCN1A):c.2098C>T (p.Gln700Ter)SNV Pathogenic 801808 2:166898847-166898847 2:166042337-166042337
18 SCN1A NM_006920.6(SCN1A):c.1543A>T (p.Lys515Ter)SNV Pathogenic 801812 2:166901672-166901672 2:166045162-166045162
19 SCN1A NC_000002.12:g.166051989deldeletion Pathogenic 801818 2:166908498-166908498 2:166051988-166051988
20 SCN1A NM_006920.6(SCN1A):c.684del (p.Val229fs)deletion Pathogenic 801819 2:166909372-166909372 2:166052862-166052862
21 SCN1A NM_006920.6(SCN1A):c.1028+1G>ASNV Pathogenic 801815 2:166905395-166905395 2:166048885-166048885
22 SCN1A NM_006920.6(SCN1A):c.262_264+1deldeletion Pathogenic 801824 2:166929867-166929870 2:166073357-166073360
23 SCN1A NM_006920.6(SCN1A):c.207del (p.Pro70fs)deletion Pathogenic 801825 2:166929925-166929925 2:166073415-166073415
24 SCN1A NM_006920.6(SCN1A):c.126dup (p.Asp43fs)duplication Pathogenic 801826 2:166930005-166930006 2:166073495-166073496
25 SCN1A NM_006920.6(SCN1A):c.2723_2724GT[1] (p.Val909fs)short repeat Pathogenic 807489 2:166894473-166894474 2:166037963-166037964
26 SCN1A NM_006920.6(SCN1A):c.4882C>G (p.Arg1628Gly)SNV Pathogenic 812511 2:166848870-166848870 2:165992360-165992360
27 SCN1A GRCh37/hg19 2q24.3(chr2:166767837-167334206)copy number loss Pathogenic 813324 2:166767837-167334206
28 SCN1A NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)SNV Pathogenic 836613 2:166911211-166911211 2:166054701-166054701
29 SCN1A NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs)deletion Pathogenic 870155 2:166848698-166848698 2:165992188-165992188
30 SCN1A NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs)deletion Pathogenic 870153 2:166850716-166850719 2:165994206-165994209
31 SCN1A NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter)indel Pathogenic 870157 2:166904143-166904143 2:166047633-166047633
32 SCN1A NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs)insertion Pathogenic 870156 2:166909366-166909367 2:166052856-166052857
33 SCN1A NM_001165963.4(SCN1A):c.591del (p.Ile198fs)deletion Pathogenic 870159 2:166911159-166911159 2:166054649-166054649
34 SCN1A NM_001165963.4(SCN1A):c.1489del (p.Arg497fs)deletion Pathogenic 870349 2:166901726-166901726 2:166045216-166045216
35 SCN1A NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)SNV Pathogenic 870417 2:166859172-166859172 2:166002662-166002662
36 SCN1A NM_001165963.4(SCN1A):c.36del (p.Asp12fs)deletion Pathogenic 870591 2:166930096-166930096 2:166073586-166073586
37 SCN1A NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)SNV Pathogenic 12890 rs121918625 2:166893031-166893031 2:166036521-166036521
38 SCN1A NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)SNV Pathogenic 12894 rs121918629 2:166848659-166848659 2:165992149-165992149
39 SCN1A NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)SNV Pathogenic 12895 rs121918630 2:166850677-166850677 2:165994167-165994167
40 SCN1A SCN1A, 1-BP DEL, 2528Gdeletion Pathogenic 12898
41 SCN1A SCN1A, EX21-26DELdeletion Pathogenic 12899
42 SCN1A SCN1A, 6.5-KB DELdeletion Pathogenic 12900
43 SCN1A NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs)deletion Pathogenic 12901 2:166870350-166870350 2:166013840-166013840
44 SCN1A NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)SNV Pathogenic 29883 rs397514458 2:166848779-166848779 2:165992269-165992269
45 SCN1A NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly)SNV Pathogenic 29884 rs397514459 2:166895938-166895938 2:166039428-166039428
46 SCN1A NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)SNV Pathogenic 12882 rs121918622 2:166848842-166848842 2:165992332-165992332
47 SCN1A NM_001165963.4(SCN1A):c.655_656AG[1] (p.Arg219fs)short repeat Pathogenic 12888 2:166909398-166909399 2:166052888-166052889
48 SCN1A NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser)SNV Pathogenic 68504 rs121917929 2:166903480-166903480 2:166046970-166046970
49 SCN1A NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)SNV Pathogenic 68505 rs121917929 2:166903480-166903480 2:166046970-166046970
50 SCN1A NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)SNV Pathogenic 68506 rs121917927 2:166903479-166903479 2:166046969-166046969

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
Sources

Expression for Epileptic Encephalopathy, Early Infantile, 6

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

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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
Developmental Biology 65
Show member pathways
 13.32 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
2
Sweet Taste Signaling 63
Show member pathways
 12.9 KCNT1 GABRG2 GABRD GABRB3 GABRA1 CDKL5
3
G-Beta Gamma Signaling 63
Show member pathways
 12.87 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
4
Transmission across Chemical Synapses 65
Show member pathways
 12.82 STXBP1 KCNQ3 KCNQ2 GABRG2 GABRB3 GABRA1
5
Cardiac conduction 65
Show member pathways
 12.64 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
6
Neuropathic Pain-Signaling in Dorsal Horn Neurons 63
Show member pathways
 12.5 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
7
Neuroscience 4
12.4 STXBP1 SCN9A SCN8A SCN2A SCN1B SCN1A
8
GABAergic synapse 36
Show member pathways
 12.38 GABRG2 GABRD GABRB3 GABRA1
9
Apoptosis Pathway 70
Show member pathways
 12.27 GABRG2 GABRD GABRB3 GABRA1
10
GABA receptor activation 65
Show member pathways
 11.89 GABRG2 GABRB3 GABRA1
11
Taste transduction 36
Show member pathways
 11.85 SCN9A SCN3A SCN2A GABRA1
12
L1CAM interactions 65
Show member pathways
 11.65 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
13
Phase 0 - rapid depolarisation 65
Show member pathways
 11.51 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
14
Nicotine addiction 36
11.31 GABRG2 GABRD GABRB3 GABRA1
15
Ligand-gated ion channel transport 65
Show member pathways
 11.28 GABRG2 GABRB3 GABRA1
16
Benzodiazepine Pathway, Pharmacodynamics 60
Show member pathways
 10.81 GABRG2 GABRA1
17
Synaptic Neurotransmission: GABAergic Inhibition 64
10.79 GABRG2 GABRD GABRB3 GABRA1
18
Interaction between L1 and Ankyrins 65
10.7 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
Sources

GO Terms for Epileptic Encephalopathy, Early Infantile, 6

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

(show all 19)
# 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 synapse GO:0045202 10.07 KCNQ3 KCNQ2 GABRG2 GABRD GABRB3 GABRA1
5 integral component of plasma membrane GO:0005887 10.03 SCN9A SCN2A SCN1B PCDH19 PCDH10 KCNQ3
6 neuron projection GO:0043005 9.97 SCN9A GABRG2 GABRD GABRB3 GABRA1
7 glutamatergic synapse GO:0098978 9.88 STXBP1 SCN2A GABRD CDKL5
8 postsynaptic membrane GO:0045211 9.86 GABRG2 GABRD GABRB3 GABRA1
9 axon GO:0030424 9.85 STXBP1 SCN9A SCN8A SCN3A SCN2A SCN1B
10 GABA-ergic synapse GO:0098982 9.81 GABRG2 GABRD GABRB3 GABRA1
11 chloride channel complex GO:0034707 9.78 GABRG2 GABRD GABRB3 GABRA1
12 postsynapse GO:0098794 9.75 STXBP1 GABRG2 GABRA1
13 T-tubule GO:0030315 9.72 SCN2A SCN1B SCN1A
14 intercalated disc GO:0014704 9.71 SCN2A SCN1B SCN1A
15 GABA-A receptor complex GO:1902711 9.71 GABRG2 GABRD GABRB3 GABRA1
16 axon initial segment GO:0043194 9.67 SCN8A SCN1A KCNQ3 KCNQ2
17 sodium channel complex GO:0034706 9.61 SCN2A SCN1B SCN1A
18 voltage-gated sodium channel complex GO:0001518 9.43 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
19 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 20)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.07 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ3
2 chemical synaptic transmission GO:0007268 9.93 KCNQ3 KCNQ2 GABRG2 GABRD GABRB3 GABRA1
3 sodium ion transport GO:0006814 9.88 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
4 chloride transmembrane transport GO:1902476 9.85 GABRG2 GABRD GABRB3 GABRA1
5 sodium ion transmembrane transport GO:0035725 9.85 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
6 chloride transport GO:0006821 9.84 GABRG2 GABRD GABRB3 GABRA1
7 regulation of membrane potential GO:0042391 9.83 SCN1A GABRG2 GABRD GABRB3 GABRA1
8 ion transmembrane transport GO:0034220 9.81 SCN9A SCN8A SCN3A SCN2A SCN1A GABRG2
9 nervous system process GO:0050877 9.8 GABRG2 GABRD GABRB3 GABRA1
10 regulation of postsynaptic membrane potential GO:0060078 9.74 GABRG2 GABRD GABRA1
11 gamma-aminobutyric acid signaling pathway GO:0007214 9.73 GABRG2 GABRB3 GABRA1
12 neuronal action potential GO:0019228 9.72 SCN9A SCN8A SCN3A SCN2A SCN1A
13 inhibitory synapse assembly GO:1904862 9.69 GABRG2 GABRB3 GABRA1
14 cellular response to histamine GO:0071420 9.65 GABRG2 GABRB3 GABRA1
15 membrane depolarization during action potential GO:0086010 9.65 SCN9A SCN8A SCN3A SCN2A SCN1A
16 cardiac muscle cell action potential involved in contraction GO:0086002 9.59 SCN1B SCN1A
17 synaptic transmission, GABAergic GO:0051932 9.58 GABRG2 GABRA1
18 neuronal action potential propagation GO:0019227 9.58 SCN1B SCN1A
19 regulation of ion transmembrane transport GO:0034765 9.56 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
20 ion transport GO:0006811 9.44 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.85 GABRG2 GABRD GABRB3 GABRA1
2 neurotransmitter receptor activity GO:0030594 9.8 GABRG2 GABRD GABRB3 GABRA1
3 chloride channel activity GO:0005254 9.78 GABRG2 GABRD GABRB3 GABRA1
4 voltage-gated ion channel activity GO:0005244 9.76 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
5 extracellular ligand-gated ion channel activity GO:0005230 9.73 GABRG2 GABRD GABRB3 GABRA1
6 sodium channel activity GO:0005272 9.73 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
7 cation channel activity GO:0005261 9.72 SCN9A SCN8A SCN3A SCN2A SCN1A
8 potassium channel activity GO:0005267 9.71 KCNT1 KCNQ3 KCNQ2
9 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.71 GABRG2 GABRD GABRB3 GABRA1
10 GABA-A receptor activity GO:0004890 9.67 GABRG2 GABRD GABRB3 GABRA1
11 GABA-gated chloride ion channel activity GO:0022851 9.63 GABRG2 GABRB3 GABRA1
12 benzodiazepine receptor activity GO:0008503 9.52 GABRG2 GABRA1
13 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.51 GABRG2 GABRA1
14 voltage-gated sodium channel activity GO:0005248 9.43 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
15 ion channel activity GO:0005216 9.36 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ3
Sources

Sources for Epileptic Encephalopathy, Early Infantile, 6

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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