EIEE6
MCID: EPL184
MIFTS: 69

Epileptic Encephalopathy, Early Infantile, 6 (EIEE6)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal 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 57 75 38
Dravet Syndrome 57 12 53 54 59 75 37 13 55 15
Smei 57 12 53 59 75
Severe Myoclonic Epilepsy of Infancy 57 53 54 59
Severe Myoclonic Epilepsy in Infancy 12 75 29 6
Eiee6 57 75
Sme 53 3
Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures 73
Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 75
Encephalopathy, Epileptic, Early Infantile, Type 6 40
Severe Myoclonic Epilepsy of Infancy; Smei 57
Myoclonic Epilepsy, Severe, of Infancy 53
Smei-Borderland More Than One Feature 75
Severe Myoclonus Epilepsy of Infancy 59
Infantile Severe Myoclonic Epilepsy 73
Smei-Borderland-Myoclonic Seizures 75
Dravet Syndrome, Modifier of 57
Smei-Borderland-Spike Wave 75
Borderline Smei 75
Smei-Borderland 75
Smeb-Sw 75
Smeb-M 75
Smeb-O 75
Icegtc 75
Smeb 75
Ds 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
epileptic encephalopathy, early infantile, 6:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 6

NINDS : 54 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 encephalopathy and epilepsy with generalized tonic-clonic seizures, and has symptoms including ataxia, absence seizures and myoclonic 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. Affiliated tissues include brain, heart and liver, and related phenotypes are ataxia and muscular hypotonia

Disease Ontology : 12 An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.

NIH Rare Diseases : 53 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 : 57 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)

CDC : 3 If you are one of the millions of people in the United States living with a chronic health condition, a self-management education (SME) program can help you learn ways to reduce stress, feel better, and have more energy to live your life to the fullest. SME programs are clinically proven to reduce symptoms and improve quality of life. Whether you are living with arthritis, cancer, diabetes, heart disease or another chronic condition, there is an SME program that can help you begin to feel better.

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 6

Diseases in the 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, 25
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
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 31.0 PCDH19 SCN1A SLC25A22 STXBP1
2 epilepsy with generalized tonic-clonic seizures 30.9 SCN1A SCN2A TBC1D24
3 early myoclonic encephalopathy 30.9 GABRG2 SCN1A SCN1B SLC25A22 TBC1D24
4 myoclonic epilepsy of infancy 30.9 GABRG2 SCN1A SCN8A
5 genetic epilepsy with febrile seizures plus 30.8 SCN1A SCN9A
6 seizure disorder 30.7 KCNQ2 SCN1A SCN2A TBC1D24
7 febrile seizures 30.6 GABRD GABRG2 KCNQ2 SCN1A SCN1B SCN9A
8 epilepsy 30.4 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH19
9 infantile epileptic encephalopathy 30.1 PCDH19 SCN1A SCN2A SCN8A STXBP1
10 lennox-gastaut syndrome 30.1 GABRA1 GABRB3 GABRG2 SCN1A SNRPE STXBP1
11 focal epilepsy 29.9 GABRD GABRG2 SCN1A SCN2A SCN3A SCN8A
12 generalized epilepsy with febrile seizures plus 29.6 GABRA1 GABRD GABRG2 KCNQ2 SCN1A SCN1B
13 generalized epilepsy with febrile seizures plus, type 2 11.1
14 scn1a-related seizure disorders 11.1
15 status epilepticus 10.4
16 autoimmune lymphoproliferative syndrome 10.3
17 lymphoproliferative syndrome 10.3
18 febrile infection-related epilepsy syndrome 10.3 PCDH19 SCN1A
19 generalized epilepsy with febrile seizures plus, type 1 10.3 SCN1A SCN1B
20 deafness, autosomal dominant 16 10.3 SCN2A SCN3A
21 coffin-siris syndrome 4 10.2 SCN2A SCN8A SCN9A
22 epileptic encephalopathy, early infantile, 9 10.2 PCDH10 PCDH19 SCN1A
23 autism 10.2
24 hyperekplexia 10.2 GABRG2 SCN9A TBC1D24
25 reflex epilepsy 10.2 TBC1D24 WARS
26 epilepsy, nocturnal frontal lobe, 1 10.2 GABRG2 KCNQ2 SCN1A SCN1B
27 mental retardation, x-linked, syndromic, hedera type 10.2 GABRA1 SCN2A
28 epileptic encephalopathy, early infantile, 1 10.2 KCNQ2 TBC1D24
29 undetermined early-onset epileptic encephalopathy 10.2 SCN3A SCN8A STXBP1
30 malignant migrating partial seizures of infancy 10.2 SCN1A SCN2A SLC25A22 TBC1D24
31 visual epilepsy 10.2 KCNQ2 SCN1A SCN2A STXBP1
32 autosomal dominant non-syndromic intellectual disability 10.2 SCN2A STXBP1 TBC1D24
33 benign familial neonatal epilepsy 10.2 KCNQ2 SCN2A SCN3A TBC1D24
34 benign neonatal seizures 10.2 KCNQ2 SCN2A
35 seizures, benign familial infantile, 3 10.2 GABRG2 KCNQ2 SCN1A SCN1B SCN2A
36 benign familial infantile epilepsy 10.2 KCNQ2 SCN1B SCN2A SCN8A
37 trigeminal neuralgia 10.1 SCN3A SCN9A
38 benign epilepsy with centrotemporal spikes 10.1 GABRG2 KCNQ2 SCN1B SCN2A TBC1D24
39 childhood electroclinical syndrome 10.1 GABRA1 GABRB3 GABRG2 TBC1D24 WARS
40 myoclonus 10.1
41 west syndrome 10.1 KCNQ2 SCN1A SCN2A SCN8A STXBP1 TBC1D24
42 adolescence-adult electroclinical syndrome 10.0 GABRA1 GABRB3 GABRD GABRG2 SCN1A TBC1D24
43 hyperinsulinism 10.0
44 right bundle branch block 10.0 SCN1B SCN2B
45 hemiplegia 10.0
46 movement disease 10.0
47 childhood absence epilepsy 10.0 GABRA1 GABRB3 GABRG2 PCDH19 SCN1B WARS
48 epilepsy, idiopathic generalized 10 10.0 GABRA1 GABRB3 GABRD GABRG2 SCN1A SCN2A
49 neonatal period electroclinical syndrome 10.0 KCNQ2 SCN1A SCN2A SCN8A SLC25A22 STXBP1
50 infancy electroclinical syndrome 9.9 GABRG2 KCNQ2 PCDH10 PCDH19 SCN1A SCN1B

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
absence seizures
status epilepticus
mental deterioration
delayed psychomotor development
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

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

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
4 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
5 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
6 neurodevelopmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0012758
7 absence seizures 59 32 Very frequent (99-80%) HP:0002121
8 febrile seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002373
9 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
10 focal clonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002266
11 obtundation status 59 32 frequent (33%) Frequent (79-30%) HP:0011151
12 seizures 59 Very frequent (99-80%)
13 behavioral abnormality 59 Frequent (79-30%)
14 global developmental delay 32 HP:0001263
15 motor delay 32 HP:0001270
16 generalized seizures 59 Very frequent (99-80%)
17 status epilepticus 32 HP:0002133
18 mental deterioration 32 HP:0001268
19 focal seizures with impairment of consciousness or awareness 59 Occasional (29-5%)
20 cerebral atrophy 32 HP:0002059
21 postnatal microcephaly 32 HP:0005484
22 epileptic encephalopathy 32 HP:0200134
23 pschomotor retardation 59 Very frequent (99-80%)
24 bilateral convulsive seizures 59 Occasional (29-5%)
25 psychomotor retardation 32 hallmark (90%) HP:0025356
26 hemiclonic seizures 32 HP:0006813
27 cerebral visual impairment 32 HP:0100704
28 focal impaired awareness seizure 32 occasional (7.5%) HP:0002384
29 generalized tonic-clonic seizures with focal onset 32 occasional (7.5%) HP:0007334

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


ataxia, absence seizures, myoclonic seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH19
2 growth/size/body region MP:0005378 9.93 GABRA1 GABRB3 GABRG2 KCNQ2 PCDH10 SCN1A
3 mortality/aging MP:0010768 9.83 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10
4 nervous system MP:0003631 9.47 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 6

Search Clinical Trials , 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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 6

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

41
Brain, Heart, Liver, Eye, Testes, Skin, Cortex

Publications for Epileptic Encephalopathy, Early Infantile, 6

Articles related to Epileptic Encephalopathy, Early Infantile, 6:

(show top 50) (show all 383)
# Title Authors Year
1
Gene expression profiling in a mouse model of Dravet syndrome. ( 30347190 )
2019
2
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. ( 29558884 )
2018
3
Sleep problems in Dravet syndrome: a modifiable comorbidity. ( 29110313 )
2018
4
Acute encephalopathy after febrile status epilepticus: an underdiagnosed, misunderstood complication of Dravet syndrome. ( 29655225 )
2018
5
The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome. ( 29573403 )
2018
6
More daytime sleepiness and worse quality of sleep in patients with Dravet Syndrome compared to other epilepsy patients. ( 30340858 )
2018
7
Population Pharmacokinetics of Stiripentol in Paediatric Patients with Dravet Syndrome Treated with Stiripentol, Valproate and Clobazam Combination Therapy. ( 28819726 )
2018
8
Cannabidiol reduced frequency of convulsive seizures in drug resistant Dravet syndrome. ( 28939549 )
2018
9
Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey. ( 28984349 )
2018
10
Development and content validation of a preliminary core set of patient- and caregiver-relevant outcomes for inclusion in a potential composite endpoint for Dravet Syndrome. ( 29108913 )
2018
11
Is epilepsy the cause of comorbidities in Dravet syndrome? ( 29124748 )
2018
12
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations. ( 29141279 )
2018
13
Sleep, oxygen saturation, and seizures in Dravet syndrome. ( 29238957 )
2018
14
Marked efficacy of combined three-drug therapy (Sodium Valproate, Topiramate and Stiripentol) in a patient with Dravet syndrome. ( 29265387 )
2018
15
Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients. ( 29295803 )
2018
16
Cannabidiol for drug-resistant seizures in the Dravet syndrome. ( 29314377 )
2018
17
Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. ( 29329111 )
2018
18
Somatic mosaic deletions involving SCN1A cause Dravet syndrome. ( 29341473 )
2018
19
Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis. ( 29408779 )
2018
20
The direct and indirect costs of Dravet Syndrome. ( 29414539 )
2018
21
Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey. ( 29414545 )
2018
22
Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene. ( 29453127 )
2018
23
Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study. ( 29473155 )
2018
24
Long-term pragmatic use of stiripentol for Dravet syndrome. ( 29512151 )
2018
25
Altered vaccine-induced immunity in children with Dravet syndrome. ( 29512885 )
2018
26
Randomized, dose-ranging safety trial of cannabidiol in Dravet syndrome. ( 29540584 )
2018
27
Seizure Freedom in Patients with Dravet Syndrome with Contraceptives: A Case Report with Two Patients. ( 29571173 )
2018
28
Treatment Strategies for Dravet Syndrome. ( 29594870 )
2018
29
Reefer to the Rescue: The Dope on Cannabidiol as a Multi-Symptom Panacea for Dravet Syndrome. ( 29643753 )
2018
30
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes. ( 29750338 )
2018
31
Economic Evaluation of Stiripentol for Dravet Syndrome: A Cost-Utility Analysis. ( 29761351 )
2018
32
Retracing the natural history of Dravet syndrome: Report and review of literature. ( 29766956 )
2018
33
Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening. ( 29915537 )
2018
34
The adult motor phenotype of Dravet syndrome is associated with mutation of the STXBP1 gene and responds well to cannabidiol treatment. ( 29929108 )
2018
35
Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene. ( 29981888 )
2018
36
Prospective study of the efficacy of a ketogenic diet in 20 patients with Dravet syndrome. ( 29990707 )
2018
37
Correction to: Treatment Strategies for Dravet Syndrome. ( 30027402 )
2018
38
Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death. ( 30076230 )
2018
39
A Transient Developmental Window of Fast-Spiking Interneuron Dysfunction in a Mouse Model of Dravet Syndrome. ( 30104343 )
2018
40
Dravet Syndrome: A Sodium Channel Interneuronopathy. ( 30123852 )
2018
41
Do children with Dravet syndrome continue to benefit from stiripentol for long through adulthood? ( 30132836 )
2018
42
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes. ( 30146492 )
2018
43
[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome. ( 30176532 )
2018
44
A prospective open-label trial of a CBD/THC cannabis oil in dravet syndrome. ( 30250864 )
2018
45
Individualized treatment approaches: Fenfluramine, a novel antiepileptic medication for the treatment of seizures in Dravet syndrome. ( 30269941 )
2018
46
A novel GABAergic dysfunction in human Dravet syndrome. ( 30306542 )
2018
47
Current Treatment Strategies and Future Treatment Options for Dravet Syndrome. ( 30315507 )
2018
48
Dravet syndrome in South African infants: Tools for an early diagnosis. ( 30321769 )
2018
49
Perineal stimulation triggering seizures in a child with Dravet syndrome. ( 30336400 )
2018
50
Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study. ( 30353809 )
2018

Variations for Epileptic Encephalopathy, Early Infantile, 6

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

75 (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

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

6 (show top 50) (show all 1333)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh37 Chromosome 2, 167168238: 167168238
2 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh38 Chromosome 2, 166311728: 166311728
3 SCN1A NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His) single nucleotide variant Pathogenic rs121918622 GRCh37 Chromosome 2, 166848842: 166848842
4 SCN1A NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His) single nucleotide variant Pathogenic rs121918622 GRCh38 Chromosome 2, 165992332: 165992332
5 SCN1A SCN1A, 2-BP DEL, 657AG deletion Pathogenic
6 SCN1A NM_006920.5(SCN1A): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918624 GRCh37 Chromosome 2, 166909392: 166909392
7 SCN1A NM_006920.5(SCN1A): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918624 GRCh38 Chromosome 2, 166052882: 166052882
8 SCN1A NM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe) single nucleotide variant Pathogenic rs121918625 GRCh37 Chromosome 2, 166893031: 166893031
9 SCN1A NM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe) single nucleotide variant Pathogenic rs121918625 GRCh38 Chromosome 2, 166036521: 166036521
10 SCN1A NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile) single nucleotide variant Pathogenic rs121918629 GRCh37 Chromosome 2, 166848659: 166848659
11 SCN1A NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile) single nucleotide variant Pathogenic rs121918629 GRCh38 Chromosome 2, 165992149: 165992149
12 SCN1A NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe) single nucleotide variant Pathogenic rs121918630 GRCh37 Chromosome 2, 166850677: 166850677
13 SCN1A NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe) single nucleotide variant Pathogenic rs121918630 GRCh38 Chromosome 2, 165994167: 165994167
14 SCN1A SCN1A, 1-BP DEL, 2528G deletion Pathogenic
15 SCN1A SCN1A, EX21-26DEL deletion Pathogenic
16 SCN1A SCN1A, 6.5-KB DEL deletion Pathogenic
17 SCN1A SCN1A, 1-BP DEL, 3608A deletion Pathogenic
18 SCN1A NM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu) single nucleotide variant Pathogenic rs397514458 GRCh37 Chromosome 2, 166848779: 166848779
19 SCN1A NM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu) single nucleotide variant Pathogenic rs397514458 GRCh38 Chromosome 2, 165992269: 165992269
20 SCN1A NM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly) single nucleotide variant Pathogenic rs397514459 GRCh37 Chromosome 2, 166895938: 166895938
21 SCN1A NM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly) single nucleotide variant Pathogenic rs397514459 GRCh38 Chromosome 2, 166039428: 166039428
22 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh37 Chromosome 2, 167137018: 167137018
23 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh38 Chromosome 2, 166280508: 166280508
24 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh37 Chromosome 2, 167129256: 167129256
25 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh38 Chromosome 2, 166272746: 166272746
26 SCN1A NM_001165963.1(SCN1A): c.1212A> G (p.Val404=) single nucleotide variant Benign rs7580482 GRCh37 Chromosome 2, 166903445: 166903445
27 SCN1A NM_001165963.1(SCN1A): c.1212A> G (p.Val404=) single nucleotide variant Benign rs7580482 GRCh38 Chromosome 2, 166046935: 166046935
28 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh37 Chromosome 2, 166897864: 166897864
29 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh38 Chromosome 2, 166041354: 166041354
30 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh37 Chromosome 2, 166868775: 166868775
31 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh38 Chromosome 2, 166012265: 166012265
32 SCN1A NM_006920.4(SCN1A): c.1066A> G (p.Arg356Gly) single nucleotide variant not provided rs121917920 GRCh37 Chromosome 2, 166904241: 166904241
33 SCN1A NM_006920.4(SCN1A): c.1066A> G (p.Arg356Gly) single nucleotide variant not provided rs121917920 GRCh38 Chromosome 2, 166047731: 166047731
34 SCN1A NM_006920.4(SCN1A): c.1072C> A (p.Pro358Thr) single nucleotide variant not provided rs121917923 GRCh37 Chromosome 2, 166904235: 166904235
35 SCN1A NM_006920.4(SCN1A): c.1072C> A (p.Pro358Thr) single nucleotide variant not provided rs121917923 GRCh38 Chromosome 2, 166047725: 166047725
36 SCN1A NM_006920.4(SCN1A): c.1098T> A (p.Asp366Glu) single nucleotide variant not provided rs121917958 GRCh37 Chromosome 2, 166904209: 166904209
37 SCN1A NM_006920.4(SCN1A): c.1098T> A (p.Asp366Glu) single nucleotide variant not provided rs121917958 GRCh38 Chromosome 2, 166047699: 166047699
38 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh37 Chromosome 2, 166904177: 166904177
39 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh38 Chromosome 2, 166047667: 166047667
40 SCN1A NM_006920.4(SCN1A): c.1149C> G (p.Phe383Leu) single nucleotide variant not provided rs121917939 GRCh37 Chromosome 2, 166904158: 166904158
41 SCN1A NM_006920.4(SCN1A): c.1149C> G (p.Phe383Leu) single nucleotide variant not provided rs121917939 GRCh38 Chromosome 2, 166047648: 166047648
42 SCN1A NM_006920.4(SCN1A): c.1177C> A (p.Arg393Ser) single nucleotide variant not provided rs121917929 GRCh37 Chromosome 2, 166903480: 166903480
43 SCN1A NM_006920.4(SCN1A): c.1177C> A (p.Arg393Ser) single nucleotide variant not provided rs121917929 GRCh38 Chromosome 2, 166046970: 166046970
44 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh37 Chromosome 2, 166903480: 166903480
45 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh38 Chromosome 2, 166046970: 166046970
46 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh37 Chromosome 2, 166903479: 166903479
47 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh38 Chromosome 2, 166046969: 166046969
48 SCN1A NM_006920.4(SCN1A): c.1207T> C (p.Phe403Leu) single nucleotide variant not provided rs121917966 GRCh37 Chromosome 2, 166903450: 166903450
49 SCN1A NM_006920.4(SCN1A): c.1207T> C (p.Phe403Leu) single nucleotide variant not provided rs121917966 GRCh38 Chromosome 2, 166046940: 166046940
50 SCN1A NM_006920.5(SCN1A): c.1237T> A (p.Tyr413Asn) single nucleotide variant not provided rs121917967 GRCh37 Chromosome 2, 166903420: 166903420

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

7
# CNVD ID Chromosom 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:

37
# Name Kegg Source Accession
1 Dopaminergic synapse hsa04728

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
2
Show member pathways
12.87 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
3
Show member pathways
12.82 GABRA1 GABRB3 GABRG2 KCNQ2 STXBP1
4
Show member pathways
12.7 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
5
Show member pathways
12.5 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
6 12.39 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN8A
7
Show member pathways
12.36 GABRA1 GABRB3 GABRD GABRG2
8
Show member pathways
12.25 GABRA1 GABRB3 GABRD GABRG2
9
Show member pathways
11.87 GABRA1 GABRB3 GABRG2
10
Show member pathways
11.87 GABRA1 SCN2A SCN3A SCN9A
11
Show member pathways
11.65 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
12
Show member pathways
11.57 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
13 11.31 GABRA1 GABRB3 GABRD GABRG2
14
Show member pathways
11.29 GABRA1 GABRB3 GABRG2
15 10.85 GABRA1 GABRB3 GABRD GABRG2
16
Show member pathways
10.79 GABRA1 GABRG2
17 10.7 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A

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 16)
# Name GO ID Score Top Affiliating Genes
1 postsynaptic membrane GO:0045211 9.85 GABRA1 GABRB3 GABRD GABRG2
2 axon GO:0030424 9.8 GABRG2 SCN1A SCN2A SCN3A SCN8A SCN9A
3 postsynapse GO:0098794 9.73 GABRA1 GABRG2 STXBP1
4 GABA-ergic synapse GO:0098982 9.73 GABRA1 GABRB3 GABRD GABRG2
5 intercalated disc GO:0014704 9.71 SCN1A SCN1B SCN2A
6 T-tubule GO:0030315 9.7 SCN1A SCN1B SCN2A
7 chloride channel complex GO:0034707 9.67 GABRA1 GABRB3 GABRD GABRG2
8 axon initial segment GO:0043194 9.65 KCNQ2 SCN1A SCN8A
9 sodium channel complex GO:0034706 9.5 SCN1A SCN1B SCN2A
10 GABA-A receptor complex GO:1902711 9.46 GABRA1 GABRB3 GABRD GABRG2
11 node of Ranvier GO:0033268 9.35 KCNQ2 SCN1A SCN1B SCN2A SCN8A
12 voltage-gated sodium channel complex GO:0001518 9.17 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
13 membrane GO:0016020 10.44 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10
14 integral component of membrane GO:0016021 10.37 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10
15 plasma membrane GO:0005886 10.28 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10
16 integral component of plasma membrane GO:0005887 10.11 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10

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 chemical synaptic transmission GO:0007268 9.98 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 SCN1B
2 sodium ion transport GO:0006814 9.91 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
3 regulation of ion transmembrane transport GO:0034765 9.86 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
4 chloride transmembrane transport GO:1902476 9.85 GABRA1 GABRB3 GABRD GABRG2
5 regulation of membrane potential GO:0042391 9.85 GABRA1 GABRB3 GABRD GABRG2 SCN1A
6 chloride transport GO:0006821 9.84 GABRA1 GABRB3 GABRD GABRG2
7 nervous system process GO:0050877 9.8 GABRA1 GABRB3 GABRD GABRG2
8 neuronal action potential GO:0019228 9.8 SCN1A SCN2A SCN3A SCN8A SCN9A
9 regulation of postsynaptic membrane potential GO:0060078 9.75 GABRA1 GABRD GABRG2
10 gamma-aminobutyric acid signaling pathway GO:0007214 9.73 GABRA1 GABRB3 GABRG2
11 membrane depolarization during action potential GO:0086010 9.72 SCN1A SCN2A SCN3A SCN8A SCN9A
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.7 SCN1A SCN1B SCN2B
13 sodium ion transmembrane transport GO:0035725 9.7 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
14 cellular response to histamine GO:0071420 9.65 GABRA1 GABRB3 GABRG2
15 ion transmembrane transport GO:0034220 9.65 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 SCN1A
16 regulation of sodium ion transmembrane transporter activity GO:2000649 9.61 SCN1B SCN2B
17 synaptic transmission, GABAergic GO:0051932 9.61 GABRA1 GABRG2
18 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.6 SCN1B SCN2B
19 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.59 SCN1B SCN2B
20 neuronal action potential propagation GO:0019227 9.58 SCN1A SCN1B
21 response to pyrethroid GO:0046684 9.57 SCN1B SCN2B
22 ion transport GO:0006811 9.44 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 SCN1A
23 transmembrane transport GO:0055085 10.05 KCNQ2 SCN1A SCN2A SCN3A SCN8A SCN9A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.86 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
2 ion channel activity GO:0005216 9.81 GABRA1 GABRB3 GABRD GABRG2 SCN1A SCN2A
3 chloride channel activity GO:0005254 9.76 GABRA1 GABRB3 GABRD GABRG2
4 extracellular ligand-gated ion channel activity GO:0005230 9.71 GABRA1 GABRB3 GABRD GABRG2
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.67 GABRA1 GABRB3 GABRD GABRG2
6 GABA-A receptor activity GO:0004890 9.62 GABRA1 GABRB3 GABRD GABRG2
7 GABA-gated chloride ion channel activity GO:0022851 9.61 GABRA1 GABRB3 GABRG2
8 benzodiazepine receptor activity GO:0008503 9.51 GABRA1 GABRG2
9 sodium channel activity GO:0005272 9.5 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
10 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.49 GABRA1 GABRG2
11 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.48 SCN1B SCN2B
12 voltage-gated sodium channel activity GO:0005248 9.17 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A

Sources for Epileptic Encephalopathy, Early Infantile, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....