MCID: DRV001
MIFTS: 65

Dravet Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Dravet Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Dravet Syndrome:

Name: Dravet Syndrome 49 10 11 45 46 47 12 51 67
Severe Myoclonic Epilepsy of Infancy 45 46 51 24
Smei 10 45 51 67
Severe Myoclonic Epilepsy in Infancy 10 67
Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 67
Epileptic Encephalopathy, Early Infantile, 6 67
Myoclonic Epilepsy, Severe, of Infancy 45
Smei-Borderland More Than One Feature 67
Severe Myoclonus Epilepsy of Infancy 51
Infantile Severe Myoclonic Epilepsy 65
Smei-Borderland-Myoclonic Seizures 67
Dravet Syndrome, Modifier of 49
 
Smei-Borderland-Spike Wave 67
Borderline Smei 67
Smei-Borderland 67
Smeb-Sw 67
Icegtc 67
Smeb-O 67
Smeb-M 67
Eiee6 67
Smeb 67
Sme 45
Ds 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 607208
Disease Ontology10 DOID:0060171
Orphanet51 33069
ICD10 via Orphanet28 G40.4
MeSH36 D004831

Summaries for Dravet Syndrome

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OMIM:49 Dravet syndrome, first described by Dravet (1978), is a clinical term for early-onset epileptic encephalopathy (EIEE)... (607208) more...

MalaCards based summary: Dravet Syndrome, also known as severe myoclonic epilepsy of infancy, is related to epilepsy, generalized, with febrile seizures plus, type 2 and scn1a-related intractable childhood epilepsy with generalized tonic-clonic seizures, and has symptoms including autosomal dominant inheritance, ataxia and global developmental delay. An important gene associated with Dravet Syndrome is SCN1A (Sodium Channel, Voltage Gated, Type I Alpha Subunit), and among its related pathways are Synaptic Neurotransmission: GABAergic Inhibition and Benzodiazepine Pathway, Pharmacodynamics. Affiliated tissues include brain, testes and skin, and related mouse phenotypes are behavior/neurological and mortality/aging.

Disease Ontology:10 An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.

NIH Rare Diseases:45 Dravet syndrome is a severe form of epilepsy. 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. in 30 to 80 percent of cases, dravet syndrome is caused by changes in the scn1a gene, which is required for the proper function of brain cells. last updated: 6/21/2012

NINDS:46 Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy.

UniProtKB/Swiss-Prot:67 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 Dravet Syndrome

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Diseases in the Dravet Syndrome family:

Gabrg2-Related Dravet Syndrome Scn9a-Related Dravet Syndrome

Diseases related to Dravet Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy, generalized, with febrile seizures plus, type 230.5MGR6, SCN1A
2scn1a-related intractable childhood epilepsy with generalized tonic-clonic seizures10.8
3encephalopathy10.7
4child syndrome10.6
5epilepsy syndrome10.6
6kid syndrome10.6
7seizure disorder10.6
8early myoclonic encephalopathy10.6
9adult syndrome10.6
10myoclonic epilepsy of infancy10.5
11neuronitis10.4
12young syndrome10.4
13febrile seizures10.4
14brugada syndrome 510.4SCN1A, SCN1B
15febrile ulceronecrotic mucha-habermann disease10.4PCDH19, SCN1A
16c syndrome10.3
17exfoliation syndrome10.3
18peeling skin syndrome 310.3
19peeling skin syndrome10.3
20idiopathic generalized epilepsy10.3
21hemiplegia10.3
22scn9a-related inherited erythromelalgia10.3SCN1A, SCN1B, SCN9A
23hyperinsulinism10.3
24copper deficiency, familial benign10.3GABRG2, SCN1A, SCN1B
25hypothalamic hamartomas with gelastic seizures10.3GABRG2, SCN1A
26palindromic rheumatism10.3PCDH19, SCN1A, STXBP1
27olfactory nerve disease10.3GABRG2, SCN1A, SCN1B
28peeling skin syndrome 110.3
29n syndrome10.3
30sesame syndrome10.3
31childhood absence epilepsy10.3
32status epilepticus10.3
33epilepsy with generalized tonic-clonic seizures10.3
34focal epilepsy10.3
35withdrawal disorder10.3
36gabrg2-related dravet syndrome10.3
37scn9a-related dravet syndrome10.3
38peeling skin syndrome type a10.3
39floppy infant syndrome10.3GABRG2, SCN1A, SCN1B, SCN9A
40erythermalgia, primary10.3SCN9A, SERPINE2
41idiopathic interstitial pneumonia10.3GABRA1, GABRG2, SCN1A
42epileptic hemiplegia10.2PCDH19, SCN1A, SCN2A, STXBP1
43febrile seizures, familial, 3b10.2SCN9A, SERPINE2
44substernal goiter10.2PCDH19, SCN2A, STXBP1
45migraine, familial hemiplegic, 310.2MGR6, SCN1A
46shaken baby syndrome10.2SCN1A, SCN2A
47epithelioid sarcoma10.2GABRA1, GABRG2, PCDH19, SCN1A, SCN1B
48neuropathy, hereditary sensory and autonomic, type v10.2SCN9A, SERPINE2
49severe feeding difficulties - failure to thrive - microcephaly due to asxl3 deficiency10.2ATP6V0C, TBC1D24
50epilepsy, childhood absence 210.2

Graphical network of the top 20 diseases related to Dravet Syndrome:



Diseases related to dravet syndrome

Symptoms for Dravet Syndrome

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Symptoms by clinical synopsis from OMIM:

607208

Clinical features from OMIM:

607208

HPO human phenotypes related to Dravet Syndrome:

(show all 15)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 ataxia HP:0001251
3 global developmental delay HP:0001263
4 mental deterioration HP:0001268
5 motor delay HP:0001270
6 cerebral atrophy HP:0002059
7 absence seizures HP:0002121
8 generalized myoclonic seizures HP:0002123
9 status epilepticus HP:0002133
10 focal seizures with impairment of consciousness or awareness HP:0002384
11 infantile onset HP:0003593
12 postnatal microcephaly HP:0005484
13 hemiclonic seizures HP:0006813
14 cortical visual impairment HP:0100704
15 epileptic encephalopathy HP:0200134

Drugs & Therapeutics for Dravet Syndrome

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Drugs for Dravet Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1StiripentolPhase 4749763-96-4
2
Clobazamapproved, illicitPhase 31722316-47-82789
Synonyms:
1-Phenyl-5-methyl-8-chloro-1,2,4,5-tetrahydro-2,4-diketo-3H-1,5-benzodiazepine
1-Phenyl-5-methyl-8-chloro-1,2,4,5-tetrahydro-2,4-dioxo-3H-1, 5-benzodiazepine
1-Phenyl-5-methyl-8-chloro-1,2,4,5-tetrahydro-2,4-dioxo-3H-1,5-benzodiazepine
1-phenyl-5-methyl-8-chloro-1,2,4,5- tetrahydro-2,4-diketo-3H-1,5-benzodiazepine
1-phenyl-5-methyl-8-chloro-1,2,4,5-tetrahydro-2,4-dioxo-3H-1,5-benzodiazepine
22316-47-8
4(3H,5H)-dione
5-24-08-00034 (Beilstein Handbook Reference)
7-Chloro-1-methyl-5-phenyl-1,5-dihydro-benzo[b][1,4]diazepine-2,4-dione
7-Chloro-1-methyl-5-phenyl-1H-1,5-benzodiazepine-2,
7-Chloro-1-methyl-5-phenyl-1H-1,5-benzodiazepine-2,4(3H,5H)-dione
7-Chloro-1-methyl-5-phenyl-1H-1,5-benzodiazepine-2,4-(3H,5H)-dione
7-chloro-1-methyl-5-phenyl-1,5-benzodiazepine-2,4-dione
AC-273
AC1L1EGZ
Ambap22316-47-8
BRN 0758410
C012255
C8414_SIGMA
CCRIS 7506
CHEBI:31413
CHEMBL70418
CID2789
Caastilium
Chlorepin
Clobazam
Clobazam (JAN/USAN/INN)
Clobazam [USAN:BAN:INN]
Clobazamum
 
Clobazamum [INN-Latin]
Clorepin
D01253
DB00349
DEA No. 2751
EINECS 244-908-7
Frisium
H 4723
H-4723
HR 376
LM 2717
LM-2717
LS-34098
MolPort-003-940-848
Mystan
Mystan (TN)
NCGC00168249-01
NSC 336279
NSC336279
Noiafren
Odipam
Onfi
RU-4723
UNII-2MRO291B4U
Urbadan
Urbanil
Urbanyl
WLN: T67 GNV JVN IHJ CG G1 KR
ZINC00001175
clobazam
nchembio747-comp39
3Phase 3, Phase 2
4StrawberryNutraceuticalPhase 3, Phase 271
5
VerapamilapprovedPhase 211252-53-92520
Synonyms:
(+-)-Verapamil
(+/-)-VERAPAMIL
(1)-3-(3,4-Dimethoxyphenyl)-6-((5,6-dimethoxyphenethyl)methylamino)hexane-3-carbonitrile
2-(3,4-Dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methyl-amino]-2-(1-methylethyl) pentanenitrile
2-(3,4-dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methylamino]-2-propan-2-ylpentanenitrile
2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile
5-((3,4-Dimethoxyphenethyl)methylamino)-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
5-[(3,4-Dimethoxyphenethyl)methylamino]-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
52-53-9
56949-77-0
AB00053495
AC-16016
AC1L1DV5
Akilen
Anpec
Apo-Verap
Arpamyl
Arpamyl LP
BPBio1_000268
BRD-A09533288-001-02-7
BRD-A09533288-003-05-6
BSPBio_000242
BSPBio_001513
BSPBio_002358
Berkatens
Bio-0754
Bio1_000425
Bio1_000914
Bio1_001403
Bio2_000233
Bio2_000713
C07188
C27H38N2O4
CCRIS 6749
CHEBI:9948
CHEMBL6966
CID2520
CP-16533-1
CP-165331
Calan
Calan SR
Calan Sr
Calan sr
Calaptin
Calaptin 240 SR
Calcan
Cardiabeltin
Cardiagutt
Cardibeltin
Cardioprotect
Caveril
Civicor
Civicor Retard
Coraver
Cordilox
Cordilox SR
Corpamil
Covera-HS
Covera-Hs
Covera-hs
D-365
D02356
DB00661
Dexverapamil
Dignover
Dilacoran
Dilacoran HTA
DivK1c_000399
Drosteakard
Durasoptin
EINECS 200-145-1
EINECS 260-462-6
Elthon
FT-0080127
Falicard
Finoptin
Flamon
Geangin
HMS1791L15
HMS1989L15
HMS2089H17
Harteze
Hexasoptin
Hexasoptin Retard
Hormitol
I06-0063
IDI1_000399
IDI1_033983
Ikacor
Ikapress
Inselon
Iproveratril
Isoptimo
Isoptin
Isoptin Retard
Isoptin SR
Isoptin sr
Isoptine
Isoptino
Isotopin
Izoptin
Jenapamil
KBio1_000399
KBio2_000233
KBio2_002343
KBio2_002801
KBio2_004911
KBio2_005369
KBio2_007479
KBio3_000465
KBio3_000466
KBio3_002823
KBioGR_000233
 
KBioGR_001372
KBioGR_002343
KBioSS_000233
KBioSS_002346
L001330
LS-174
Lekoptin
Lodixal
Lopac0_001237
Magotiron
Manidon
Manidon Retard
MolPort-000-721-258
NCGC00016083-14
NCGC00024710-04
NCGC00024710-05
NCGC00024710-06
NCGC00024710-07
NCGC00024710-08
NCGC00024710-09
NCI60_020143
NINDS_000399
NSC272366
NU-Verap
Novapamyl LP
Novo-Veramil
Nu-Verap
Ormil
Praecicor
Prestwick0_000141
Prestwick1_000141
Prestwick2_000141
Prestwick3_000141
Quasar
Rapam
Robatelan
SID104171262
SID124881789
SID124881790
SPBio_001820
SPBio_002181
STK538085
Securon
Spectrum2_001740
Spectrum4_000906
Spectrum5_001786
Tarka
UNII-CJ0O37KU29
Univer
Univex
VERAPAMIL
Vasolan
Vasomil
Vasopten
Vera-Sanorania
Verabeta
Veracaps SR
Veracim
Veracor
Verahexal
Veraloc
Veramex
Veramil
Verapamil
Verapamil (USAN/INN)
Verapamil AL
Verapamil Acis
Verapamil Atid
Verapamil Basics
Verapamil Ebewe
Verapamil HCl
Verapamil Henning
Verapamil Hydrochloride
Verapamil Injection
Verapamil MSD
Verapamil NM
Verapamil NM Pharma
Verapamil Nordic
Verapamil PB
Verapamil Riker
Verapamil SR
Verapamil Verla
Verapamil [USAN:BAN:INN]
Verapamil [USAN:INN:BAN]
Verapamil [Usan:Ban:Inn]
Verapamil-AbZ
Verapamilo
Verapamilo [INN-Spanish]
Verapamilum
Verapamilum [INN-Latin]
Verapin
Verapress 240 SR
Veraptin
Verasal
Verasifar
Veratensin
Verdilac
Verelan
Verelan PM
Verelan Pm
Verelan SR
Verexamil
Veroptinstada
Verpamil
Vetrimil
Vortac
Vérapamil
alpha-((N-Methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
alpha-(3-((2-(3,4-Dimethoxyphenyl)ethyl)-methylamino)propyl)-3,4-dimethoxy-alpha-(1-methylethyl)benzeneacetonitrile
alpha-Isopropyl-alpha-((N-methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
cMAP_000023
delta-365
nchembio.368-comp2
nchembio.79-comp5
6Calcium, DietaryPhase 23529

Interventional clinical trials:

(show all 19)
idNameStatusNCT IDPhase
1Stiripentol in Dravet SyndromeNo longer availableNCT01533506Phase 4
2A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet SyndromeRecruitingNCT02224703Phase 3
3A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCL) in Children and Young Adults With Dravet SyndromeRecruitingNCT02682927Phase 3
4Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure DisorderRecruitingNCT02318602Phase 3
5Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet SyndromeActive, not recruitingNCT02091375Phase 3
6An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet or Lennox-Gastaut SyndromesEnrolling by invitationNCT02224573Phase 3
7Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Subjects With Inadequately Controlled Dravet SyndromeNot yet recruitingNCT02318563Phase 3
8Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet SyndromeTerminatedNCT02187809Phase 3
9Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet SyndromeWithdrawnNCT02174094Phase 3
10Verapamil as Therapy for Children and Young Adults With Dravet SyndromeCompletedNCT01607073Phase 2
11A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet SyndromeCompletedNCT02091206Phase 2
12Cannabidiol (CBD) to 27 Patients (Aged 2 Years - 19 Years) With Drug Resistant EpilepsyActive, not recruitingNCT02286986Phase 1
13Cardiac Arrhythmias in Dravet SyndromeRecruitingNCT02415686
14Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet PopulationRecruitingNCT02229032
15Genetics of Severe Early Onset EpilepsiesRecruitingNCT01858285
16Risk Factors for Sudden Unexplained Death in EpilepsyRecruitingNCT01662453
17Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic EncephalopathiesAvailableNCT02239276
18Compassionate Use of Stiripentol in Dravet SyndromeAvailableNCT01835314
19Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet SyndromeAvailableNCT01983722

Search NIH Clinical Center for Dravet Syndrome

Genetic Tests for Dravet Syndrome

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Genetic tests related to Dravet Syndrome:

id Genetic test Affiliating Genes
1 Severe Myoclonic Epilepsy in Infancy24

Anatomical Context for Dravet Syndrome

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MalaCards organs/tissues related to Dravet Syndrome:

33
Brain, Testes, Skin, Heart, Cortex

Animal Models for Dravet Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Dravet Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.8CHD2, GABRA1, GABRG2, KIF1B, SCN1A, SCN1B
2MP:00107688.3ATP6V0C, CHD2, GABRA1, GABRG2, KIF1B, SCN1A

Publications for Dravet Syndrome

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Articles related to Dravet Syndrome:

(show top 50)    (show all 223)
idTitleAuthorsYear
1
Seizure precipitants in Dravet syndrome: What events and activities are specifically provocative compared with other epilepsies? (26021464)
2015
2
Effect of vaccinations on seizure risk and disease course in Dravet syndrome. (26203087)
2015
3
Hallucinations and delusions are frequently reported in individuals with Dravet syndrome. (26469797)
2015
4
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. (25795284)
2015
5
The European patient with Dravet syndrome: Results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome. (25666511)
2015
6
Brain morphometry of Dravet Syndrome. (26531417)
2015
7
Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development. (25725421)
2015
8
Dravet syndrome in Sweden. (25731594)
2015
9
From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit. (26188943)
2015
10
Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes. (26183863)
2015
11
In response to terminology and prognosis of Dravet syndrome. (24924645)
2014
12
Lori O'Driscoll founder of the Dravet Syndrome Foundation. (24417630)
2014
13
Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome. (25281316)
2014
14
The multiple faces of Dravet syndrome. (24328832)
2014
15
Brain morphometry of Dravet syndrome. (25048308)
2014
16
"It was the interneuron with the parvalbumin in the hippocampus!" "no, it was the pyramidal cell with the glutamate in the cortex!" searching for clues to the mechanism of dravet syndrome - the plot thickens. (25678872)
2014
17
Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. (24328833)
2014
18
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. (23922229)
2013
19
Cognitive and social impairment in mouse models mirrors dravet syndrome. (23646018)
2013
20
An electroclinical study of absence seizures in Dravet syndrome. (22824327)
2013
21
Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome. (23663038)
2013
22
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. (23103419)
2013
23
Bromide in patients with SCN1A-mutations manifesting as Dravet syndrome. (22430156)
2012
24
Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations. (22150645)
2012
25
Successful use of fenfluramine as an add-on treatment for Dravet syndrome. (22554283)
2012
26
SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome. (22341965)
2012
27
On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation. (22206733)
2012
28
Mouse with Na(v)1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment. (22986304)
2012
29
Additional information regarding "Dravet syndrome: inroads into understanding epileptic encephalopathies". (22226577)
2012
30
Acute encephalopathy in children with Dravet syndrome. (22092154)
2012
31
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. (22780858)
2012
32
Generalized periodic epileptiform discharges in a child with Dravet syndrome. (21335542)
2011
33
Dravet syndrome: inroads into understanding epileptic encephalopathies. (21163495)
2011
34
Comorbidities and predictors of health-related quality of life in Dravet syndrome. (21668444)
2011
35
Dravet syndrome with an exceptionally good seizure outcome in two adolescents. (21865128)
2011
36
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. (21269283)
2011
37
Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. (21463290)
2011
38
Occlusive patch therapy for reduction of seizures in Dravet syndrome. (21127079)
2011
39
Perceptions of fever and fever management practices in parents of children with Dravet syndrome. (21703932)
2011
40
Vaccination and the onset of dravet syndrome. (21852883)
2011
41
Acute encephalopathy in a patient with Dravet syndrome. (21647847)
2011
42
When should clinicians order genetic testing for Dravet syndrome? (22000312)
2011
43
Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. (21371021)
2011
44
Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome. (21844054)
2011
45
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. (20431604)
2010
46
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. (19783390)
2009
47
A functional null mutation of SCN1B in a patient with Dravet syndrome. (19710327)
2009
48
Dravet syndrome. (19737414)
2009
49
Parental SCN1A mutation mosaicism in familial Dravet syndrome. (19673951)
2009
50
Dravet syndrome: a study of 53 patients. (16893627)
2006

Variations for Dravet Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Dravet Syndrome:

67 (show all 331)
id Symbol AA change Variation ID SNP ID
1SCN1Ap.Thr875MetVAR_010110rs121918623
2SCN1Ap.Arg1648HisVAR_010111rs121918622
3SCN1Ap.Leu986PheVAR_014268rs121918625
4SCN1Ap.Glu78AspVAR_029660rs121917933
5SCN1Ap.Arg101GlnVAR_029661rs121917918
6SCN1Ap.Ser103GlyVAR_029662rs121918743
7SCN1Ap.Thr112IleVAR_029663rs121918745
8SCN1Ap.Gly177GluVAR_029664rs121918770
9SCN1Ap.Trp190ArgVAR_029665rs121918773
10SCN1Ap.Ile227SerVAR_029666rs121917937
11SCN1Ap.Ile252AsnVAR_029667rs121918780
12SCN1Ap.Gly265TrpVAR_029668rs121918749
13SCN1Ap.Trp280ArgVAR_029669rs121917938
14SCN1Ap.Thr297IleVAR_029670rs121918771
15SCN1Ap.Gly343AspVAR_029671rs121918753
16SCN1Ap.Arg393HisVAR_029672rs121917927
17SCN1Ap.Tyr426AsnVAR_029673rs121917940
18SCN1Ap.Thr808SerVAR_029676rs121918758
19SCN1Ap.Phe902CysVAR_029677rs121918787
20SCN1Ap.Arg931CysVAR_029678rs121918788
21SCN1Ap.Met934IleVAR_029679rs121918774
22SCN1Ap.His939GlnVAR_029680rs121918795
23SCN1Ap.Val944AlaVAR_029681rs121917969
24SCN1Ap.Arg946CysVAR_029682rs121918775
25SCN1Ap.Arg946HisVAR_029683rs121917971
26SCN1Ap.Cys959ArgVAR_029684rs121918796
27SCN1Ap.Met960ValVAR_029685rs121918750
28SCN1Ap.Gly979ArgVAR_029686rs121918754
29SCN1Ap.Val983AlaVAR_029687rs121918756
30SCN1Ap.Asn985IleVAR_029688rs121918747
31SCN1Ap.Asn1011IleVAR_029689rs121918759
32SCN1Ap.Ser1231ArgVAR_029692rs121918746
33SCN1Ap.Gly1233ArgVAR_029693rs121917911
34SCN1Ap.Phe1263LeuVAR_029694rs121918752
35SCN1Ap.Leu1265ProVAR_029695rs121918794
36SCN1Ap.Leu1355ProVAR_029697rs121918776
37SCN1Ap.Ala1326ProVAR_029698rs121918803
38SCN1Ap.Val1390MetVAR_029699rs121917986
39SCN1Ap.Trp1434ArgVAR_029701rs121918789
40SCN1Ap.Gln1450ArgVAR_029702rs121918790
41SCN1Ap.Leu1461IleVAR_029703rs121918772
42SCN1Ap.Phe1463SerVAR_029704rs121917946
43SCN1Ap.Val1611PheVAR_029706rs121918630
44SCN1Ap.Pro1632SerVAR_029707rs121918755
45SCN1Ap.Arg1648CysVAR_029708rs121918791
46SCN1Ap.Phe1661SerVAR_029710rs121918797
47SCN1Ap.Pro1668AlaVAR_029711rs121917948
48SCN1Ap.Gly1674ArgVAR_029712rs121918792
49SCN1Ap.Tyr1694CysVAR_029713rs121918777
50SCN1Ap.Ala1685AspVAR_029714rs121918744
51SCN1Ap.Phe1692SerVAR_029716rs121918778
52SCN1Ap.Thr1709IleVAR_029717rs121918629
53SCN1Ap.Gly1749GluVAR_029718rs121918798
54SCN1Ap.Met1780ThrVAR_029720rs121917952
55SCN1Ap.Tyr1781CysVAR_029721rs121918779
56SCN1Ap.Phe1808LeuVAR_029723rs121918757
57SCN1Ap.Trp1812GlyVAR_029724rs121918751
58SCN1Ap.Phe1831SerVAR_029726rs121918748
59SCN1Ap.Glu1881AspVAR_029728rs121918804
60SCN1Ap.Thr1909IleVAR_029729rs121918793
61SCN1Ap.Tyr84CysVAR_043349rs121917964
62SCN1Ap.Arg118SerVAR_043350rs121917959
63SCN1Ap.Thr226MetVAR_043351rs121917984
64SCN1Ap.Ala239ThrVAR_043352rs121917985
65SCN1Ap.Asp366GluVAR_043353rs121917958
66SCN1Ap.Arg393CysVAR_043355rs121917929
67SCN1Ap.Ser626GlyVAR_043358rs121917990
68SCN1Ap.Leu1207ProVAR_043360rs121917963
69SCN1Ap.Glu1238AspVAR_043361rs121917973
70SCN1Ap.Val1335MetVAR_043362rs121917960
71SCN1Ap.Trp1358SerVAR_043363rs121917961
72SCN1Ap.Val1366IleVAR_043364rs121918805
73SCN1Ap.Tyr1462CysVAR_043365rs121917962
74SCN1Ap.Arg1596CysVAR_043368rs121917993
75SCN1Ap.Arg946SerVAR_057995rs121918775
76SCN1Ap.Phe63LeuVAR_064230rs121917907
77SCN1Ap.Phe90SerVAR_064231rs121918733
78SCN1Ap.Ile91ThrVAR_064232rs121918734
79SCN1Ap.Arg101TrpVAR_064233rs121917965
80SCN1Ap.Ile124AsnVAR_064234rs121918761
81SCN1Ap.Ile171LysVAR_064235rs121918766
82SCN1Ap.Ala175ThrVAR_064236rs121918767
83SCN1Ap.Asn191TyrVAR_064237rs121918762
84SCN1Ap.Asp194AsnVAR_064238rs121917935
85SCN1Ap.Ala239ValVAR_064239rs121917909
86SCN1Ap.Ser259ArgVAR_064240rs121918735
87SCN1Ap.Val406PheVAR_064242rs121918768
88SCN1Ap.Tyr413AsnVAR_064243rs121917967
89SCN1Ap.Leu783ProVAR_064245rs121917968
90SCN1Ap.Arg862GlnVAR_064246rs121918785
91SCN1Ap.Thr875LysVAR_064247rs121918623
92SCN1Ap.His939TyrVAR_064248rs121918736
93SCN1Ap.Val944GluVAR_064249
94SCN1Ap.Phe945LeuVAR_064250rs121917970
95SCN1Ap.Gly950GluVAR_064251rs121917972
96SCN1Ap.Trp952GlyVAR_064252rs121918737
97SCN1Ap.Glu954LysVAR_064253rs121918786
98SCN1Ap.Thr1210LysVAR_064254rs121918738
99SCN1Ap.Thr1260ProVAR_064255rs121918739
100SCN1Ap.Leu1287ProVAR_064256rs121918740
101SCN1Ap.Asn1367LysVAR_064259rs121918760
102SCN1Ap.Cys1396GlyVAR_064260rs121917987
103SCN1Ap.Gly1433GluVAR_064261rs121918741
104SCN1Ap.Gly1433ArgVAR_064262rs121917908
105SCN1Ap.Gln1450LysVAR_064263rs121918806
106SCN1Ap.Leu1514SerVAR_064264rs121918764
107SCN1Ap.Ile1545ValVAR_064265rs121917975
108SCN1Ap.Gly1586GluVAR_064266rs121918742
109SCN1Ap.Val1612IleVAR_064267rs121918808
110SCN1Ap.Val1637GluVAR_064268rs121918810
111SCN1Ap.Arg1645GlnVAR_064269rs121917976
112SCN1Ap.Thr1658MetVAR_064270rs121917922
113SCN1Ap.Met1664LysVAR_064271rs121918765
114SCN1Ap.Trp1726ArgVAR_064272rs121917979
115SCN1Ap.Cys1756GlyVAR_064273rs121918809
116SCN1Ap.Ile1782MetVAR_064274rs121918763
117SCN1Ap.Ala1783ThrVAR_064275rs121917980
118SCN1Ap.Thr162ProVAR_064296rs121917934
119SCN1Ap.Thr217LysVAR_064297rs121917936
120SCN1Ap.Arg322IleVAR_064298rs121917928
121SCN1Ap.Arg356GlyVAR_064299rs121917920
122SCN1Ap.Pro358ThrVAR_064300rs121917923
123SCN1Ap.Phe383LeuVAR_064301rs121917939
124SCN1Ap.Arg393SerVAR_064302rs121917929
125SCN1Ap.Phe403LeuVAR_064303rs121917966
126SCN1Ap.Thr812ArgVAR_064304rs121917941
127SCN1Ap.Glu846LysVAR_064305rs121917942
128SCN1Ap.Arg859CysVAR_064306rs121918784
129SCN1Ap.Leu942ProVAR_064307rs121917943
130SCN1Ap.Trp957LeuVAR_064308rs121917917
131SCN1Ap.Ser1231ThrVAR_064310rs121918800
132SCN1Ap.Arg1245GlnVAR_064311rs121917912
133SCN1Ap.Asn1414TyrVAR_064312rs121917925
134SCN1Ap.Tyr1422CysVAR_064313rs121917913
135SCN1Ap.Leu1426ArgVAR_064314rs121917944
136SCN1Ap.Pro1451LeuVAR_064315rs121917945
137SCN1Ap.Gly1470TrpVAR_064316rs121917924
138SCN1Ap.Leu1475SerVAR_064317rs121917947
139SCN1Ap.Cys1588ArgVAR_064319rs121917919
140SCN1Ap.Asp1608TyrVAR_064320rs121917915
141SCN1Ap.Val1630MetVAR_064321rs121917914
142SCN1Ap.Thr1658ArgVAR_064323rs121917922
143SCN1Ap.Ser1713AsnVAR_064325rs121918816
144SCN1Ap.Met1714ArgVAR_064326rs121917949
145SCN1Ap.Cys1716ArgVAR_064327rs121917926
146SCN1Ap.Gly1762GluVAR_064328rs121917950
147SCN1Ap.Ser1773PheVAR_064329rs121917951
148SCN1Ap.Glu1787LysVAR_064330rs121917916
149SCN1Ap.Ala1783ValVAR_064345rs121917921
150SCN1Ap.Asp79HisVAR_064346rs121917982
151SCN1Ap.Thr199ArgVAR_064347rs121917983
152SCN1Ap.Ala1441ProVAR_064348rs121917974
153SCN1Ap.Phe1707ValVAR_064349rs121917977
154SCN1Ap.Thr1721ArgVAR_064350rs121917978
155SCN1Ap.Ile1922ThrVAR_064351rs121917981
156SCN1Ap.Glu289ValVAR_072743
157SCN1Ap.Met379ArgVAR_072744
158SCN1Ap.Gly58ValVAR_073443
159SCN1Ap.Leu61PheVAR_073444
160SCN1Ap.Ile68ThrVAR_073445
161SCN1Ap.Asp79AsnVAR_073446
162SCN1Ap.Ala98ProVAR_073447
163SCN1Ap.Thr105IleVAR_073448
164SCN1Ap.Leu108ArgVAR_073449
165SCN1Ap.His127AspVAR_073450
166SCN1Ap.Ile171ArgVAR_073451
167SCN1Ap.Ala175ValVAR_073452
168SCN1Ap.Phe178SerVAR_073453
169SCN1Ap.Cys179ArgVAR_073454
170SCN1Ap.Asn191LysVAR_073455
171SCN1Ap.Asp194GlyVAR_073456
172SCN1Ap.Ala223GluVAR_073458
173SCN1Ap.Thr226ArgVAR_073459
174SCN1Ap.Ile227ThrVAR_073460
175SCN1Ap.Gly232SerVAR_073461
176SCN1Ap.Leu233ArgVAR_073462
177SCN1Ap.Ser243TyrVAR_073463
178SCN1Ap.Ile252MetVAR_073464
179SCN1Ap.Cys277ArgVAR_073466
180SCN1Ap.Trp280CysVAR_073467
181SCN1Ap.Pro281AlaVAR_073468
182SCN1Ap.Pro281LeuVAR_073469
183SCN1Ap.Pro281SerVAR_073470
184SCN1Ap.His290ArgVAR_073471
185SCN1Ap.Ser340PheVAR_073474
186SCN1Ap.Ala342ValVAR_073475
187SCN1Ap.Cys345ArgVAR_073476
188SCN1Ap.Cys351TrpVAR_073477
189SCN1Ap.Gly355AspVAR_073478
190SCN1Ap.Asn357IleVAR_073479
191SCN1Ap.Asn359SerVAR_073480
192SCN1Ap.Thr363ProVAR_073481
193SCN1Ap.Thr363ArgVAR_073482
194SCN1Ap.Leu378GlnVAR_073483
195SCN1Ap.Trp384ArgVAR_073485
196SCN1Ap.Met400ValVAR_073486
197SCN1Ap.Phe403ValVAR_073488
198SCN1Ap.Leu409TrpVAR_073489
199SCN1Ap.Tyr426CysVAR_073490
200SCN1Ap.Ser525PheVAR_073491
201SCN1Ap.Asp674GlyVAR_073492
202SCN1Ap.Asn762AspVAR_073494
203SCN1Ap.Met785ThrVAR_073495
204SCN1Ap.Thr812IleVAR_073497
205SCN1Ap.Leu842ArgVAR_073498
206SCN1Ap.Ser843ArgVAR_073499
207SCN1Ap.Arg865GlyVAR_073502
208SCN1Ap.Leu876IleVAR_073503
209SCN1Ap.Leu890ProVAR_073504
210SCN1Ap.Val896PheVAR_073505
211SCN1Ap.Val896IleVAR_073506
212SCN1Ap.Val896LeuVAR_073507
213SCN1Ap.Cys927PheVAR_073510
214SCN1Ap.Trp932CysVAR_073512
215SCN1Ap.His933ProVAR_073513
216SCN1Ap.Ser940PheVAR_073516
217SCN1Ap.Ile943AsnVAR_073517
218SCN1Ap.Cys949SerVAR_073518
219SCN1Ap.Cys949TyrVAR_073519
220SCN1Ap.Gly950ArgVAR_073520
221SCN1Ap.Met956LysVAR_073521
222SCN1Ap.Met973LysVAR_073523
223SCN1Ap.Met976IleVAR_073524
224SCN1Ap.Gly979ValVAR_073526
225SCN1Ap.Leu986ProVAR_073527
226SCN1Ap.Phe987LeuVAR_073528
227SCN1Ap.Ser993ArgVAR_073529
228SCN1Ap.Asp998GlyVAR_073530
229SCN1Ap.Glu1068LysVAR_073533
230SCN1Ap.Arg1208LysVAR_073537
231SCN1Ap.Arg1213GlnVAR_073538
232SCN1Ap.Glu1221LysVAR_073539
233SCN1Ap.Leu1230PheVAR_073540
234SCN1Ap.Asp1239GlyVAR_073541
235SCN1Ap.Asp1239TyrVAR_073542
236SCN1Ap.Tyr1254CysVAR_073545
237SCN1Ap.Ala1255AspVAR_073546
238SCN1Ap.Glu1266AlaVAR_073547
239SCN1Ap.Gly1275ValVAR_073548
240SCN1Ap.Trp1284SerVAR_073549
241SCN1Ap.Asp1288AsnVAR_073550
242SCN1Ap.Arg1316GlyVAR_073551
243SCN1Ap.Arg1316SerVAR_073552
244SCN1Ap.Ala1320ValVAR_073553
245SCN1Ap.Arg1325ThrVAR_073554
246SCN1Ap.Ser1328ProVAR_073556
247SCN1Ap.Ala1339ValVAR_073557
248SCN1Ap.Ile1344MetVAR_073558
249SCN1Ap.Val1350GlyVAR_073559
250SCN1Ap.Phe1357LeuVAR_073560
251SCN1Ap.Trp1358ArgVAR_073561
252SCN1Ap.Ala1370ProVAR_073562
253SCN1Ap.Cys1376ArgVAR_073563
254SCN1Ap.Asn1378HisVAR_073564
255SCN1Ap.Asn1378ThrVAR_073565
256SCN1Ap.Phe1385ValVAR_073566
257SCN1Ap.Asn1391SerVAR_073567
258SCN1Ap.His1393ProVAR_073568
259SCN1Ap.Thr1394IleVAR_073569
260SCN1Ap.Cys1396TyrVAR_073570
261SCN1Ap.Asp1416GlyVAR_073572
262SCN1Ap.Asn1417SerVAR_073573
263SCN1Ap.Val1418GlyVAR_073574
264SCN1Ap.Leu1423PheVAR_073575
265SCN1Ap.Gln1427ProVAR_073576
266SCN1Ap.Ala1429AspVAR_073577
267SCN1Ap.Phe1431IleVAR_073579
268SCN1Ap.Gly1433ValVAR_073580
269SCN1Ap.Ile1437MetVAR_073581
270SCN1Ap.Pro1451SerVAR_073582
271SCN1Ap.Tyr1453CysVAR_073583
272SCN1Ap.Glu1454LysVAR_073584
273SCN1Ap.Tyr1462HisVAR_073585
274SCN1Ap.Phe1472SerVAR_073586
275SCN1Ap.Asn1476LysVAR_073588
276SCN1Ap.Asp1484GlyVAR_073591
277SCN1Ap.Asn1485TyrVAR_073592
278SCN1Ap.Glu1503LysVAR_073593
279SCN1Ap.Met1511LysVAR_073595
280SCN1Ap.Val1538IleVAR_073596
281SCN1Ap.Asp1544AlaVAR_073597
282SCN1Ap.Asp1544GlyVAR_073598
283SCN1Ap.Met1555ArgVAR_073599
284SCN1Ap.Glu1561LysVAR_073600
285SCN1Ap.Val1579GluVAR_073601
286SCN1Ap.Leu1592HisVAR_073602
287SCN1Ap.Leu1592ProVAR_073603
288SCN1Ap.Arg1596LeuVAR_073605
289SCN1Ap.Asn1605SerVAR_073606
290SCN1Ap.Asp1608GlyVAR_073607
291SCN1Ap.Met1619ValVAR_073608
292SCN1Ap.Val1630LeuVAR_073609
293SCN1Ap.Ile1638AsnVAR_073610
294SCN1Ap.Ile1638ThrVAR_073611
295SCN1Ap.Arg1639GlyVAR_073612
296SCN1Ap.Arg1642SerVAR_073613
297SCN1Ap.Ala1653GluVAR_073614
298SCN1Ap.Leu1660ProVAR_073615
299SCN1Ap.Ala1662ValVAR_073616
300SCN1Ap.Leu1667ProVAR_073617
301SCN1Ap.Pro1668LeuVAR_073618
302SCN1Ap.Asn1672IleVAR_073619
303SCN1Ap.Ile1673ThrVAR_073620
304SCN1Ap.Leu1675ArgVAR_073621
305SCN1Ap.Leu1677PheVAR_073622
306SCN1Ap.Ile1683ThrVAR_073624
307SCN1Ap.Tyr1684AspVAR_073625
308SCN1Ap.Tyr1684SerVAR_073626
309SCN1Ap.Gly1688TrpVAR_073627
310SCN1Ap.Met1714LysVAR_073628
311SCN1Ap.Ala1724ProVAR_073629
312SCN1Ap.Gly1725CysVAR_073630
313SCN1Ap.Asp1727GlyVAR_073631
314SCN1Ap.Cys1741ArgVAR_073633
315SCN1Ap.Ile1763AsnVAR_073634
316SCN1Ap.Ile1770PheVAR_073636
317SCN1Ap.Ile1770AsnVAR_073637
318SCN1Ap.Ile1770ThrVAR_073638
319SCN1Ap.Ile1771PheVAR_073639
320SCN1Ap.Ile1771AsnVAR_073640
321SCN1Ap.Tyr1781HisVAR_073641
322SCN1Ap.Ile1782SerVAR_073642
323SCN1Ap.Ala1792ThrVAR_073644
324SCN1Ap.Phe1808IleVAR_073645
325SCN1Ap.Trp1812SerVAR_073646
326SCN1Ap.Ala1832ProVAR_073648
327SCN1Ap.Leu1835PheVAR_073649
328SCN1Ap.Met1852LysVAR_073650
329SCN1Ap.Pro1855LeuVAR_073651
330SCN1Ap.Arg1861TrpVAR_073652
331SCN1Ap.Gly1880GluVAR_073654

Clinvar genetic disease variations for Dravet Syndrome:

5 (show all 286)
id Gene Variation Type Significance SNP ID Assembly Location
1GABRA1NM_000806.5(GABRA1): c.751G> A (p.Gly251Ser)single nucleotide variantPathogenicrs587777307GRCh38Chr 5, 161890945: 161890945
2GABRA1NM_000806.5(GABRA1): c.917A> C (p.Lys306Thr)single nucleotide variantPathogenicrs587777309GRCh38Chr 5, 161895726: 161895726
3STXBP1NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys)single nucleotide variantPathogenicrs587777310GRCh37Chr 9, 130430411: 130430411
4NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His)single nucleotide variantPathogenicrs121918622GRCh37Chr 2, 166848842: 166848842
5SCN1ASCN1A, 2-BP DEL, 657AGdeletionPathogenic
6SCN1ANM_001165963.1(SCN1A): c.664C> T (p.Arg222Ter)single nucleotide variantPathogenicrs121918624GRCh37Chr 2, 166909392: 166909392
7SCN1ANM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe)single nucleotide variantPathogenicrs121918625GRCh37Chr 2, 166893031: 166893031
8NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile)single nucleotide variantPathogenicrs121918629GRCh37Chr 2, 166848659: 166848659
9NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe)single nucleotide variantPathogenicrs121918630GRCh37Chr 2, 166850677: 166850677
10SCN1ASCN1A, 1-BP DEL, 2528GdeletionPathogenic
11SCN1ASCN1A, DEL EX21-26deletionPathogenic
12SCN1ASCN1A, 6.5-KB DELdeletionPathogenic
13SCN1ASCN1A, 1-BP DEL, 3608AdeletionPathogenic
14STXBP1NM_001032221.3(STXBP1): c.734A> G (p.His245Arg)single nucleotide variantLikely pathogenicrs587784453GRCh37Chr 9, 130428515: 130428515
15STXBP1NM_001032221.3(STXBP1): c.754_755delAT (p.Met252Glufs)deletionPathogenicrs587784454GRCh37Chr 9, 130428535: 130428536
16STXBP1NM_003165.3(STXBP1): c.433T> C (p.Tyr145His)single nucleotide variantLikely pathogenicrs587784455GRCh37Chr 9, 130425487: 130425487
17NM_001165963.1(SCN1A): c.3733C> T (p.Arg1245Ter)single nucleotide variantPathogenicrs727504136GRCh38Chr 2, 166012255: 166012255
18SCN1ANM_006920.4(SCN1A): c.2557-2A> Gsingle nucleotide variantPathogenicrs727504140GRCh37Chr 2, 166894644: 166894644
19SCN1ANM_001165963.1(SCN1A): c.2420dupT (p.Thr808Hisfs)duplicationPathogenicrs786200989GRCh37Chr 2, 166896102: 166896102
20SCN1ANM_001165963.1(SCN1A): c.694+5G> Csingle nucleotide variantPathogenicrs727504142GRCh37Chr 2, 166909357: 166909357
21SCN1ANM_001165963.1(SCN1A): c.1118delT (p.Leu373Cysfs)deletionPathogenicrs794726695GRCh37Chr 2, 166904189: 166904189
22NM_001165963.1(SCN1A): c.4351C> A (p.Pro1451Thr)single nucleotide variantPathogenicrs794726696GRCh38Chr 2, 165998163: 165998163
23SCN1ANM_001165963.1(SCN1A): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs794726697GRCh37Chr 2, 166894639: 166894639
24NM_001165963.1(SCN1A): c.5003C> G (p.Pro1668Arg)single nucleotide variantPathogenicrs794726698GRCh37Chr 2, 166848782: 166848782
25NM_001165963.1(SCN1A): c.4302G> A (p.Trp1434Ter)single nucleotide variantPathogenicrs794726699GRCh37Chr 2, 166856269: 166856269
26NM_001165963.1(SCN1A): c.3879+1G> Tsingle nucleotide variantPathogenicrs794726700GRCh37Chr 2, 166868618: 166868618
27SCN1ANM_001165963.1(SCN1A): c.1624C> T (p.Arg542Ter)single nucleotide variantPathogenicrs138877187GRCh37Chr 2, 166901591: 166901591
28NM_001165963.1(SCN1A): c.4879_4883dupAAGTA (p.Tyr1628Terfs)duplicationPathogenicrs794726701GRCh38Chr 2, 165992392: 165992396
29NM_001165963.1(SCN1A): c.5250_5251insGG (p.Ser1751Glyfs)insertionPathogenicrs794726702GRCh37Chr 2, 166848534: 166848535
30NM_001165963.1(SCN1A): c.5250_5252delCTC (p.Ser1750_Ser1751delinsArg)deletionPathogenicrs794726703GRCh38Chr 2, 165992023: 165992025
31SCN1ANM_001165963.1(SCN1A): c.2044_6030deldeletionPathogenic
32SCN1ANM_001165963.1(SCN1A): c.1667delT (p.Leu556Cysfs)deletionPathogenicrs794726704GRCh37Chr 2, 166900555: 166900555
33NM_001165963.1(SCN1A): c.4244_4245delTT (p.Phe1415Terfs)deletionPathogenicrs794726705GRCh38Chr 2, 166002511: 166002512
34NM_001165963.1(SCN1A): c.3726_3727insAT (p.Asp1243Metfs)insertionPathogenicrs794726706GRCh37Chr 2, 166868771: 166868772
35NM_001165963.1(SCN1A): c.4088T> A (p.Ile1363Asn)single nucleotide variantPathogenicrs794726707GRCh38Chr 2, 166002668: 166002668
36SCN1ANM_001165963.1(SCN1A): c.2584C> T (p.Arg862Ter)single nucleotide variantPathogenicrs397514459GRCh37Chr 2, 166895938: 166895938
37SCN1ANM_001165963.1(SCN1A): c.2879T> G (p.Met960Arg)single nucleotide variantPathogenicrs794726708GRCh37Chr 2, 166894353: 166894353
38NM_001165963.1(SCN1A): c.5536A> T (p.Lys1846Ter)single nucleotide variantPathogenicrs372098964GRCh37Chr 2, 166848249: 166848249
39NM_001165963.1(SCN1A): c.3802_3812delCTTCTAAAATG (p.Leu1268Glyfs)deletionPathogenicrs794726709GRCh38Chr 2, 166012176: 166012186
40NM_001165963.1(SCN1A): c.3637C> T (p.Arg1213Ter)single nucleotide variantPathogenicrs794726710GRCh37Chr 2, 166870322: 166870322
41SCN1ANM_001165963.1(SCN1A): c.337C> A (p.Pro113Thr)single nucleotide variantPathogenicrs794726711GRCh37Chr 2, 166915126: 166915126
42SCN1ANM_001165963.1(SCN1A): c.2588T> G (p.Leu863Trp)single nucleotide variantPathogenicrs794726712GRCh37Chr 2, 166895934: 166895934
43SCN1ANM_001165963.1(SCN1A): c.1076A> G (p.Asn359Ser)single nucleotide variantPathogenicrs794726713GRCh37Chr 2, 166904231: 166904231
44SCN1ANM_001165963.1(SCN1A): c.2946+1_2946+2delGTdeletionPathogenicrs794726714GRCh37Chr 2, 166894284: 166894285
45SCN1ANM_001165963.1(SCN1A): c.2946delG (p.Val983Serfs)deletionPathogenicrs794726715GRCh37Chr 2, 166894286: 166894286
46SCN1ANM_001165963.1(SCN1A): c.2876G> A (p.Cys959Tyr)single nucleotide variantPathogenicrs794726716GRCh37Chr 2, 166894356: 166894356
47SCN1ANM_001165963.1(SCN1A): c.1659dupC (p.Gln554Profs)duplicationPathogenicrs794726717GRCh37Chr 2, 166901556: 166901556
48SCN1ANM_001165963.1(SCN1A): c.2792G> A (p.Arg931His)single nucleotide variantPathogenicrs794726718GRCh37Chr 2, 166894440: 166894440
49NM_001165963.1(SCN1A): c.4906C> T (p.Arg1636Ter)single nucleotide variantPathogenicrs199727342GRCh38Chr 2, 165992369: 165992369
50SCN1ANM_001165963.1(SCN1A): c.675G> C (p.Lys225Asn)single nucleotide variantPathogenicrs794726719GRCh37Chr 2, 166909381: 166909381
51SCN1ANM_001165963.1(SCN1A): c.1072C> T (p.Pro358Ser)single nucleotide variantPathogenicrs121917923GRCh37Chr 2, 166904235: 166904235
52NM_001165963.1(SCN1A): c.3615G> A (p.Trp1205Ter)single nucleotide variantPathogenicrs794726720GRCh37Chr 2, 166870344: 166870344
53SCN1ANM_001165963.1(SCN1A): c.2728C> A (p.Gln910Lys)single nucleotide variantPathogenicrs794726721GRCh37Chr 2, 166894504: 166894504
54SCN1ANM_001165963.1(SCN1A): c.474_602del129 (p.Thr160_Tyr202del)deletionPathogenicGRCh37Chr 2, 166911148: 166911276
55NM_001165963.1(SCN1A): c.5264A> G (p.Asp1755Gly)single nucleotide variantPathogenicrs794726722GRCh37Chr 2, 166848521: 166848521
56NM_001165963.1(SCN1A): c.3970_3971dupCT (p.Arg1325Terfs)duplicationPathogenicrs794726723GRCh37Chr 2, 166866260: 166866261
57SCN1ANM_001165963.1(SCN1A): c.659_662delTTCT (p.Val220Alafs)deletionPathogenicrs794726724GRCh37Chr 2, 166909394: 166909397
58NM_001165963.1(SCN1A): c.3763G> C (p.Ala1255Pro)single nucleotide variantPathogenicrs777939538GRCh37Chr 2, 166868735: 166868735
59SCN1ANM_001165963.1(SCN1A): c.1199T> A (p.Met400Lys)single nucleotide variantPathogenicrs794726725GRCh37Chr 2, 166903458: 166903458
60NM_001165963.1(SCN1A): c.5536_5539delAAAC (p.Lys1846Serfs)deletionPathogenicrs794726726GRCh37Chr 2, 166848246: 166848249
61SCN1ANM_001165963.1(SCN1A): c.2837G> C (p.Arg946Pro)single nucleotide variantPathogenicrs121917971GRCh37Chr 2, 166894395: 166894395
62NM_001165963.1(SCN1A): c.3730C> T (p.Gln1244Ter)single nucleotide variantPathogenicrs794726727GRCh37Chr 2, 166868768: 166868768
63NM_001165963.1(SCN1A): c.3455C> A (p.Ser1152Ter)single nucleotide variantPathogenicrs794726728GRCh38Chr 2, 166015702: 166015702
64NM_001165963.1(SCN1A): c.3477delC (p.Ile1159Metfs)deletionPathogenicrs794726729GRCh37Chr 2, 166872190: 166872190
65SCN1ANM_001165963.1(SCN1A): c.2134C> T (p.Arg712Ter)single nucleotide variantPathogenicrs794726730GRCh37Chr 2, 166898844: 166898844
66NM_001165963.1(SCN1A): c.3828T> A (p.Tyr1276Ter)single nucleotide variantPathogenicrs794726731GRCh38Chr 2, 166012160: 166012160
67SCN1ANM_001165963.1(SCN1A): c.1136T> A (p.Met379Lys)single nucleotide variantPathogenicrs794726732GRCh37Chr 2, 166904171: 166904171
68NM_001165963.1(SCN1A): c.3439G> T (p.Glu1147Ter)single nucleotide variantPathogenicrs794726733GRCh38Chr 2, 166015718: 166015718
69NM_001165963.1(SCN1A): c.4338+4A> Csingle nucleotide variantPathogenicrs794726734GRCh38Chr 2, 165999719: 165999719
70NM_001165963.1(SCN1A): c.3705+2T> Asingle nucleotide variantPathogenicrs794726735GRCh37Chr 2, 166870252: 166870252
71SCN1ANM_001165963.1(SCN1A): c.1738C> T (p.Arg580Ter)single nucleotide variantPathogenicrs794726736GRCh38Chr 2, 166043974: 166043974
72NM_001165963.1(SCN1A): c.5780G> C (p.Arg1927Thr)single nucleotide variantPathogenicrs794726737GRCh38Chr 2, 165991495: 165991495
73SCN1ANM_001165963.1(SCN1A): c.121A> T (p.Lys41Ter)single nucleotide variantPathogenicrs764444350GRCh37Chr 2, 166930011: 166930011
74SCN1ANM_001165963.1(SCN1A): c.2523_2524delGC (p.Leu842Terfs)deletionPathogenicrs794726738GRCh37Chr 2, 166895998: 166895999
75NM_001165963.1(SCN1A): c.5674C> T (p.Arg1892Ter)single nucleotide variantPathogenicrs794726739GRCh37Chr 2, 166848111: 166848111
76NM_001165963.1(SCN1A): c.5014A> C (p.Asn1672His)single nucleotide variantPathogenicrs794726740GRCh37Chr 2, 166848771: 166848771
77NM_001165963.1(SCN1A): c.5349_5352dupGGTC (p.Ile1785Glyfs)duplicationPathogenicrs794726741GRCh37Chr 2, 166848433: 166848436
78SCN1ANM_001165963.1(SCN1A): c.308G> T (p.Ser103Ile)single nucleotide variantPathogenicrs760361423GRCh37Chr 2, 166915155: 166915155
79SCN1ANM_001165963.1(SCN1A): c.2213G> T (p.Trp738Leu)single nucleotide variantPathogenicrs794726742GRCh37Chr 2, 166897943: 166897943
80SCN1ANM_001165963.1(SCN1A): c.2261G> T (p.Trp754Leu)single nucleotide variantPathogenicrs794726743GRCh37Chr 2, 166897895: 166897895
81NM_001165963.1(SCN1A): c.3705+1G> Asingle nucleotide variantPathogenicrs794726744GRCh37Chr 2, 166870253: 166870253
82NM_001165963.1(SCN1A): c.4188C> A (p.Cys1396Ter)single nucleotide variantPathogenicrs794726745GRCh38Chr 2, 166002568: 166002568
83SCN1ANM_001165963.1(SCN1A): c.530G> T (p.Gly177Val)single nucleotide variantPathogenicrs121918770GRCh37Chr 2, 166911220: 166911220
84SCN1ANM_001165963.1(SCN1A): c.2985T> G (p.Phe995Leu)single nucleotide variantPathogenicrs794726746GRCh37Chr 2, 166893002: 166893002
85SCN1ANM_001165963.1(SCN1A): c.2071A> T (p.Lys691Ter)single nucleotide variantPathogenicrs794726747GRCh38Chr 2, 166042397: 166042397
86NM_001165963.1(SCN1A): c.5082T> G (p.Tyr1694Ter)single nucleotide variantPathogenicrs794726748GRCh38Chr 2, 165992193: 165992193
87SCN1ANM_001165963.1(SCN1A): c.1662+1G> Tsingle nucleotide variantPathogenicrs794726749GRCh37Chr 2, 166901552: 166901552
88SCN1ANM_001165963.1(SCN1A): c.2299_2302dupGACC (p.Pro768Argfs)duplicationPathogenicrs794726750GRCh37Chr 2, 166897854: 166897857
89SCN1ANM_001165963.1(SCN1A): c.751delA (p.Met251Terfs)deletionPathogenicrs794726751GRCh37Chr 2, 166908442: 166908442
90NM_001165963.1(SCN1A): c.4573C> T (p.Arg1525Ter)single nucleotide variantPathogenicrs794726752GRCh38Chr 2, 165996021: 165996021
91NM_001165963.1(SCN1A): c.5656C> T (p.Arg1886Ter)single nucleotide variantPathogenicrs779614747GRCh38Chr 2, 165991619: 165991619
92SCN1ANM_001165963.1(SCN1A): c.1146C> A (p.Asp382Glu)single nucleotide variantPathogenicrs794726753GRCh37Chr 2, 166904161: 166904161
93NM_001165963.1(SCN1A): c.5010_5013delGTTT (p.Phe1671Thrfs)deletionPathogenicrs794726754GRCh38Chr 2, 165992262: 165992265
94SCN1ANM_001165963.1(SCN1A): c.728C> A (p.Ser243Tyr)single nucleotide variantPathogenicrs794726755GRCh37Chr 2, 166908465: 166908465
95SCN1ANM_001165963.1(SCN1A): c.3062_3066delAAGGA (p.Lys1021Serfs)deletionPathogenicrs794726756GRCh37Chr 2, 166892921: 166892925
96SCN1ANM_001165963.1(SCN1A): c.2353A> G (p.Met785Val)single nucleotide variantPathogenicrs767045134GRCh37Chr 2, 166897803: 166897803
97NM_001165963.1(SCN1A): c.4611_4645dup35 (p.Ile1549Thrfs)duplicationPathogenicrs794726757GRCh37Chr 2, 166850863: 166850897
98NM_001165963.1(SCN1A): c.5003delC (p.Pro1668Leufs)deletionPathogenicrs794726758GRCh37Chr 2, 166848782: 166848782
99SCN1ANM_001165963.1(SCN1A): c.1265T> C (p.Val422Ala)single nucleotide variantPathogenicrs121917989GRCh37Chr 2, 166903392: 166903392
100NM_001165963.1(SCN1A): c.4933C> T (p.Arg1645Ter)single nucleotide variantPathogenicrs794726759GRCh38Chr 2, 165992342: 165992342
101NM_001165963.1(SCN1A): c.4997C> T (p.Ser1666Phe)single nucleotide variantPathogenicrs794726760GRCh37Chr 2, 166848788: 166848788
102NM_001165963.1(SCN1A): c.4547C> G (p.Ser1516Trp)single nucleotide variantPathogenicrs139300715GRCh37Chr 2, 166852557: 166852557
103SCN1ANM_001165963.1(SCN1A): c.2690T> C (p.Leu897Ser)single nucleotide variantPathogenicrs794726761GRCh37Chr 2, 166894542: 166894542
104SCN1ANM_001165963.1(SCN1A): c.264+5G> Csingle nucleotide variantPathogenicrs794726762GRCh38Chr 2, 166073353: 166073353
105NM_001165963.1(SCN1A): c.5222G> A (p.Cys1741Tyr)single nucleotide variantPathogenicrs794726763GRCh38Chr 2, 165992053: 165992053
106SCN1ANM_001165963.1(SCN1A): c.384-1C> Gsingle nucleotide variantPathogenicrs794726764GRCh37Chr 2, 166913011: 166913011
107SCN1ANM_001165963.1(SCN1A): c.1170+1G> Tsingle nucleotide variantPathogenicrs794726765GRCh37Chr 2, 166904136: 166904136
108SCN1ANM_001165963.1(SCN1A): c.2303C> T (p.Pro768Leu)single nucleotide variantPathogenicrs794726766GRCh37Chr 2, 166897853: 166897853
109SCN1ANM_001165963.1(SCN1A): c.1055_1056delTG (p.Val352Glufs)deletionPathogenicrs794726767GRCh37Chr 2, 166904251: 166904252
110SCN1ANM_001165963.1(SCN1A): c.1048A> G (p.Met350Val)single nucleotide variantPathogenicrs794726768GRCh37Chr 2, 166904259: 166904259
111NM_001165963.1(SCN1A): c.5470G> T (p.Glu1824Ter)single nucleotide variantPathogenicrs794726769GRCh37Chr 2, 166848315: 166848315
112NM_001165963.1(SCN1A): c.3706G> C (p.Ala1236Pro)single nucleotide variantPathogenicrs794726770GRCh37Chr 2, 166868792: 166868792
113SCN1ANM_001165963.1(SCN1A): c.769T> C (p.Cys257Arg)single nucleotide variantLikely pathogenic, Pathogenicrs794726771GRCh37Chr 2, 166908424: 166908424
114SCN1ANM_001165963.1(SCN1A): c.2946+1G> Tsingle nucleotide variantPathogenicrs794726772GRCh37Chr 2, 166894285: 166894285
115SCN1ANM_001165963.1(SCN1A): c.1662+3A> Gsingle nucleotide variantPathogenicrs794726773GRCh37Chr 2, 166901550: 166901550
116NM_001165963.1(SCN1A): c.3487delG (p.Val1163Terfs)deletionPathogenicrs794726774GRCh37Chr 2, 166872180: 166872180
117SCN1ANM_001165963.1(SCN1A): c.2589+3A> Tsingle nucleotide variantPathogenicrs794726775GRCh37Chr 2, 166895930: 166895930
118SCN1ANM_001165963.1(SCN1A): c.1183_1184delGC (p.Ala395Trpfs)deletionPathogenicrs794726776GRCh37Chr 2, 166903473: 166903474
119SCN1ANM_001165963.1(SCN1A): c.1182_1183insA (p.Ala395Serfs)insertionPathogenicrs794726777GRCh37Chr 2, 166903474: 166903475
120SCN1ANM_001165963.1(SCN1A): c.1834C> T (p.Arg612Ter)single nucleotide variantPathogenicrs794726778GRCh37Chr 2, 166900388: 166900388
121NM_001165963.1(SCN1A): c.4086C> G (p.Ser1362Arg)single nucleotide variantPathogenicrs794726779GRCh38Chr 2, 166002670: 166002670
122NM_001165963.1(SCN1A): c.5404G> T (p.Glu1802Ter)single nucleotide variantPathogenicrs794726780GRCh37Chr 2, 166848381: 166848381
123NM_001165963.1(SCN1A): c.5461C> T (p.Gln1821Ter)single nucleotide variantPathogenicrs794726781GRCh37Chr 2, 166848324: 166848324
124SCN1ANM_001165963.1(SCN1A): c.1033T> C (p.Cys345Arg)single nucleotide variantPathogenicrs794726782GRCh37Chr 2, 166904274: 166904274
125NM_001165963.1(SCN1A): c.5334delG (p.Asn1779Thrfs)deletionPathogenicrs794726783GRCh37Chr 2, 166848451: 166848451
126NM_001165963.1(SCN1A): c.4223G> A (p.Trp1408Ter)single nucleotide variantPathogenicrs794726784GRCh37Chr 2, 166859043: 166859043
127NM_001165963.1(SCN1A): c.4823delA (p.Asp1608Valfs)deletionPathogenicrs794726785GRCh37Chr 2, 166850685: 166850685
128SCN1ANM_001165963.1(SCN1A): c.2615C> A (p.Ser872Tyr)single nucleotide variantPathogenicrs794726786GRCh37Chr 2, 166894617: 166894617
129SCN1ANM_001165963.1(SCN1A): c.2603delA (p.Lys868Serfs)deletionPathogenicrs794726787GRCh37Chr 2, 166894629: 166894629
130SCN1ANM_001165963.1(SCN1A): c.896_905delATTATAATGG (p.Asn299Ilefs)deletionPathogenicrs794726788GRCh37Chr 2, 166908288: 166908297
131NM_001165963.1(SCN1A): c.4016C> T (p.Ala1339Val)single nucleotide variantPathogenicrs794726789GRCh38Chr 2, 166002740: 166002740
132SCN1ANM_001165963.1(SCN1A): c.1516C> T (p.Gln506Ter)single nucleotide variantPathogenicrs794726790GRCh37Chr 2, 166901699: 166901699
133SCN1ANM_001165963.1(SCN1A): c.185delC (p.Pro62Hisfs)deletionPathogenicrs794726791GRCh37Chr 2, 166929947: 166929947
134SCN1ANM_001165963.1(SCN1A): c.1096_1115del20 (p.Asp366Phefs)deletionPathogenicrs794726792GRCh37Chr 2, 166904192: 166904211
135SCN1ANM_001165963.1(SCN1A): c.323T> C (p.Leu108Pro)single nucleotide variantPathogenicrs794726793GRCh37Chr 2, 166915140: 166915140
136SCN1ANM_001165963.1(SCN1A): c.2537A> G (p.Glu846Gly)single nucleotide variantPathogenicrs794726794GRCh37Chr 2, 166895985: 166895985
137SCN1ANM_001165963.1(SCN1A): c.2176+3T> Asingle nucleotide variantPathogenicrs794726795GRCh37Chr 2, 166898799: 166898799
138SCN1ANM_001165963.1(SCN1A): c.289_292delAAGG (p.Lys97Profs)deletionPathogenicrs794726796GRCh38Chr 2, 166058661: 166058664
139SCN1ANM_001165963.1(SCN1A): c.1025C> T (p.Ala342Val)single nucleotide variantPathogenicrs794726797GRCh37Chr 2, 166905399: 166905399
140SCN1ANM_001165963.1(SCN1A): c.2792G> C (p.Arg931Pro)single nucleotide variantLikely pathogenic, Pathogenicrs794726718GRCh37Chr 2, 166894440: 166894440
141SCN1ANM_001165963.1(SCN1A): c.1007G> A (p.Cys336Tyr)single nucleotide variantPathogenicrs794726798GRCh37Chr 2, 166905417: 166905417
142SCN1ANM_001165963.1(SCN1A): c.1129C> T (p.Arg377Ter)single nucleotide variantPathogenicrs794726799GRCh37Chr 2, 166904178: 166904178
143NM_001165963.1(SCN1A): c.4811G> A (p.Trp1604Ter)single nucleotide variantPathogenicrs794726800GRCh38Chr 2, 165994187: 165994187
144NM_001165963.1(SCN1A): c.5515C> G (p.Leu1839Val)single nucleotide variantPathogenicrs794726801GRCh38Chr 2, 165991760: 165991760
145NM_001165963.1(SCN1A): c.5108A> T (p.Asp1703Val)single nucleotide variantPathogenicrs794726802GRCh37Chr 2, 166848677: 166848677
146SCN1ANM_001165963.1(SCN1A): c.383+1A> Gsingle nucleotide variantPathogenicrs794726803GRCh37Chr 2, 166915079: 166915079
147NM_001165963.1(SCN1A): c.3899C> G (p.Thr1300Arg)single nucleotide variantPathogenicrs146878122GRCh38Chr 2, 166009822: 166009822
148SCN1ANM_001165963.1(SCN1A): c.2213G> A (p.Trp738Ter)single nucleotide variantPathogenicrs794726742GRCh38Chr 2, 166041433: 166041433
149NM_001165963.1(SCN1A): c.5106T> A (p.Asp1702Glu)single nucleotide variantPathogenicrs794726804GRCh37Chr 2, 166848679: 166848679
150SCN1ANM_001165963.1(SCN1A): c.2479T> G (p.Tyr827Asp)single nucleotide variantPathogenicrs794726805GRCh37Chr 2, 166896043: 166896043
151SCN1ANM_001165963.1(SCN1A): c.2100delC (p.Met701Trpfs)deletionPathogenicrs794726806GRCh37Chr 2, 166898878: 166898878
152SCN1ANM_001165963.1(SCN1A): c.1345G> T (p.Glu449Ter)single nucleotide variantPathogenicrs794726807GRCh37Chr 2, 166903312: 166903312
153SCN1ANM_001165963.1(SCN1A): c.2869_2878delTGGGACTGTA (p.Asp958Argfs)deletionPathogenicrs794726808GRCh38Chr 2, 166037844: 166037853
154NM_001165963.1(SCN1A): c.3106C> T (p.Gln1036Ter)single nucleotide variantPathogenicrs542420576GRCh38Chr 2, 166036371: 166036371
155NM_001165963.1(SCN1A): c.4412C> T (p.Ser1471Phe)single nucleotide variantPathogenicrs794726809GRCh37Chr 2, 166854612: 166854612
156SCN1ANM_001165963.1(SCN1A): c.1301delT (p.Leu434Trpfs)deletionPathogenicrs794726810GRCh37Chr 2, 166903356: 166903356
157SCN1ANM_001165963.1(SCN1A): c.2780G> T (p.Cys927Phe)single nucleotide variantPathogenicrs794726811GRCh37Chr 2, 166894452: 166894452
158SCN1ANM_001165963.1(SCN1A): c.825_826insGTATA (p.Lys276Valfs)insertionPathogenicrs794726812GRCh37Chr 2, 166908367: 166908368
159SCN1ANM_001165963.1(SCN1A): c.3017delA (p.Asp1006Valfs)deletionPathogenicrs794726813GRCh37Chr 2, 166892970: 166892970
160SCN1ANM_001165963.1(SCN1A): c.384_964deldeletionPathogenic
161SCN1ANM_001165963.1(SCN1A): c.747T> G (p.Asp249Glu)single nucleotide variantPathogenicrs773407463GRCh37Chr 2, 166908446: 166908446
162NM_001165963.1(SCN1A): c.5284_5291dupGGAATTTT (p.Phe1764Leufs)duplicationPathogenicrs794726814GRCh37Chr 2, 166848494: 166848501
163SCN1ANM_001165963.1(SCN1A): c.2678T> A (p.Leu893Ter)single nucleotide variantPathogenicrs794726815GRCh37Chr 2, 166894554: 166894554
164NM_001165963.1(SCN1A): c.3880-2A> Gsingle nucleotide variantPathogenicrs794726816GRCh38Chr 2, 166009843: 166009843
165NM_001165963.1(SCN1A): c.3757G> T (p.Glu1253Ter)single nucleotide variantPathogenicrs794726817GRCh38Chr 2, 166012231: 166012231
166SCN1ANM_001165963.1(SCN1A): c.1197_1198delCA (p.Met400Aspfs)deletionPathogenicrs794726818GRCh37Chr 2, 166903459: 166903460
167NM_001165963.1(SCN1A): c.4993_4996dupATGT (p.Ser1666Tyrfs)duplicationPathogenicrs794726819GRCh37Chr 2, 166848789: 166848792
168SCN1ANM_001165963.1(SCN1A): c.2318_2319insT (p.Ile774Hisfs)insertionPathogenicrs794726820GRCh37Chr 2, 166897837: 166897838
169NM_001165963.1(SCN1A): c.4055T> C (p.Leu1352Pro)single nucleotide variantPathogenicrs794726821GRCh37Chr 2, 166859211: 166859211
170NM_001165963.1(SCN1A): c.4044G> A (p.Met1348Ile)single nucleotide variantPathogenicrs794726822GRCh37Chr 2, 166859222: 166859222
171SCN1ANM_001165963.1(SCN1A): c.2903G> T (p.Cys968Phe)single nucleotide variantPathogenicrs794726823GRCh37Chr 2, 166894329: 166894329
172SCN1ANM_001165963.1(SCN1A): c.965-1G> Asingle nucleotide variantPathogenicrs794726824GRCh37Chr 2, 166905460: 166905460
173NM_001165963.1(SCN1A): c.4554delA (p.Lys1518Asnfs)deletionPathogenicrs794726825GRCh37Chr 2, 166852550: 166852550
174SCN1ANM_001165963.1(SCN1A): c.4285_4476deldeletionPathogenic
175SCN1ANM_001165963.1(SCN1A): c.1259C> T (p.Ala420Val)single nucleotide variantPathogenicrs794726826GRCh37Chr 2, 166903398: 166903398
176SCN1ANM_001165963.1(SCN1A): c.602+1G> Tsingle nucleotide variantPathogenicrs794726827GRCh37Chr 2, 166911147: 166911147
177NM_001165963.1(SCN1A): c.4766T> G (p.Val1589Gly)single nucleotide variantPathogenicrs764037830GRCh37Chr 2, 166850742: 166850742
178SCN1ANM_001165963.1(SCN1A): c.2929G> A (p.Val977Met)single nucleotide variantPathogenicrs794726828GRCh37Chr 2, 166894303: 166894303
179SCN1ANM_001165963.1(SCN1A): c.1439_1442delCAGA (p.Asp481Alafs)deletionPathogenicrs794726829GRCh37Chr 2, 166901773: 166901776
180SCN1ANM_001165963.1(SCN1A): c.2980_2981delTC (p.Ser994Ilefs)deletionPathogenicrs794726830GRCh37Chr 2, 166893006: 166893007
181SCN1ANM_001165963.1(SCN1A): c.380A> T (p.His127Leu)single nucleotide variantPathogenicrs794726831GRCh37Chr 2, 166915083: 166915083
182NM_001165963.1(SCN1A): c.5297_5298delTT (p.Phe1766Cysfs)deletionPathogenicrs794726832GRCh37Chr 2, 166848487: 166848488
183SCN1ANM_001165963.1(SCN1A): c.602+3A> Csingle nucleotide variantPathogenicrs794726833GRCh37Chr 2, 166911145: 166911145
184NM_001165963.1(SCN1A): c.4934G> C (p.Arg1645Pro)single nucleotide variantPathogenicrs121917976GRCh38Chr 2, 165992341: 165992341
185SCN1ANM_001165963.1(SCN1A): c.1804G> T (p.Glu602Ter)single nucleotide variantPathogenicrs794726834GRCh37Chr 2, 166900418: 166900418
186NM_001165963.1(SCN1A): c.4549A> T (p.Lys1517Ter)single nucleotide variantPathogenicrs794726835GRCh38Chr 2, 165996045: 165996045
187NM_001165963.1(SCN1A): c.3550+1G> Asingle nucleotide variantPathogenicrs794726836GRCh37Chr 2, 166872116: 166872116
188SCN1ANM_001165963.1(SCN1A): c.964+14T> Gsingle nucleotide variantPathogenicrs794726837GRCh37Chr 2, 166908215: 166908215
189SCN1ANM_001165963.1(SCN1A): c.1970C> T (p.Pro657Leu)single nucleotide variantPathogenicrs794726838GRCh37Chr 2, 166900252: 166900252
190NM_001165963.1(SCN1A): c.4985C> T (p.Ala1662Val)single nucleotide variantPathogenicrs794726839GRCh37Chr 2, 166848800: 166848800
191SCN1ANM_001165963.1(SCN1A): c.473+1G> Csingle nucleotide variantPathogenicrs794726840GRCh37Chr 2, 166912920: 166912920
192NM_001165963.1(SCN1A): c.3818C> T (p.Ala1273Val)single nucleotide variantPathogenicrs794726841GRCh38Chr 2, 166012170: 166012170
193NM_001165963.1(SCN1A): c.4168G> C (p.Val1390Leu)single nucleotide variantPathogenicrs121917986GRCh37Chr 2, 166859098: 166859098
194SCN1ANM_001165963.1(SCN1A): c.4338_6030deldeletionPathogenic
195SCN1ANM_001165963.1(SCN1A): c.2936G> A (p.Gly979Glu)single nucleotide variantPathogenicrs794726842GRCh37Chr 2, 166894296: 166894296
196SCN1ANM_001165963.1(SCN1A): c.1024G> T (p.Ala342Ser)single nucleotide variantPathogenicrs794726843GRCh37Chr 2, 166905400: 166905400
197SCN1ANM_001165963.1(SCN1A): c.1046A> G (p.Tyr349Cys)single nucleotide variantPathogenicrs794726844GRCh37Chr 2, 166904261: 166904261
198NM_001165963.1(SCN1A): c.5662C> T (p.Gln1888Ter)single nucleotide variantPathogenicrs794726845GRCh37Chr 2, 166848123: 166848123
199SCN1ANM_001165963.1(SCN1A): c.930_931dupTG (p.Glu311Valfs)duplicationPathogenicrs794726846GRCh37Chr 2, 166908262: 166908263
200SCN1ANM_001165963.1(SCN1A): c.826A> C (p.Lys276Gln)single nucleotide variantPathogenicrs794726847GRCh37Chr 2, 166908367: 166908367
201SCN1ANM_001165963.1(SCN1A): c.1663_2176deldeletionPathogenic
202SCN1ANM_001165963.1(SCN1A): c.70G> A (p.Ala24Thr)single nucleotide variantPathogenicrs794726848GRCh37Chr 2, 166930062: 166930062
203SCN1ANM_001165963.1(SCN1A): c.433A> G (p.Met145Val)single nucleotide variantPathogenicrs794726849GRCh37Chr 2, 166912961: 166912961
204NM_001165963.1(SCN1A): c.4829_4830dupTG (p.Val1611Trpfs)duplicationPathogenicrs794726850GRCh37Chr 2, 166850678: 166850679
205NM_001165963.1(SCN1A): c.5063G> T (p.Gly1688Val)single nucleotide variantPathogenicrs794726851GRCh38Chr 2, 165992212: 165992212
206SCN1ANM_001165963.1(SCN1A): c.384_1662dupduplicationPathogenic
207NM_001165963.1(SCN1A): c.3821A> C (p.Tyr1274Ser)single nucleotide variantPathogenicrs794726852GRCh37Chr 2, 166868677: 166868677
208NM_001165963.1(SCN1A): c.3858G> A (p.Trp1286Ter)single nucleotide variantPathogenicrs794726853GRCh37Chr 2, 166868640: 166868640
209SCN1ANM_001165963.1(SCN1A): c.384_473del90 (p.Leu129_Glu158del)deletionPathogenicGRCh37Chr 2, 166912921: 166913010
210NM_001165963.1(SCN1A): c.3661G> C (p.Glu1221Gln)single nucleotide variantPathogenicrs794726854GRCh37Chr 2, 166870298: 166870298
211NM_006920.4(SCN1A): c.4191G> A (p.Trp1397Ter)single nucleotide variantPathogenicrs794727337GRCh37Chr 2, 166859042: 166859042
212SCN1ANM_001165963.1(SCN1A): c.602+1G> Asingle nucleotide variantPathogenicrs794726827GRCh37Chr 2, 166911147: 166911147
213NM_001165963.1(SCN1A): c.3985C> T (p.Arg1329Ter)single nucleotide variantPathogenicrs796053004GRCh38Chr 2, 166009736: 166009736
214NM_001165963.1(SCN1A): c.4476+1A> Gsingle nucleotide variantPathogenicrs796053014GRCh37Chr 2, 166854547: 166854547
215STXBP1NM_003165.3(STXBP1): c.1029+1G> Csingle nucleotide variantPathogenicrs727504173GRCh38Chr 9, 127672117: 127672117
216SCN1ANM_001165963.1(SCN1A): c.1028+1G> Tsingle nucleotide variantPathogenicGRCh38Chr 2, 166048885: 166048885
217SCN1ANM_001165963.1(SCN1A): c.249C> A (p.Tyr83Ter)single nucleotide variantPathogenicGRCh37Chr 2, 166929883: 166929883
218SCN1ANM_001165963.1(SCN1A): c.264+5G> Asingle nucleotide variantPathogenicrs794726762GRCh37Chr 2, 166929863: 166929863
219NM_001165963.1(SCN1A): c.3306C> A (p.Tyr1102Ter)single nucleotide variantPathogenicGRCh37Chr 2, 166892681: 166892681
220NM_001165963.1(SCN1A): c.3657G> A (p.Trp1219Ter)single nucleotide variantPathogenicGRCh37Chr 2, 166870302: 166870302
221NM_001165963.1(SCN1A): c.3852delG (p.Trp1284Cysfs)deletionPathogenicGRCh37Chr 2, 166868646: 166868646
222NM_001165963.1(SCN1A): c.4266T> A (p.Tyr1422Ter)single nucleotide variantPathogenicGRCh37Chr 2, 166859000: 166859000
223NM_001165963.1(SCN1A): c.4477-2A> Gsingle nucleotide variantPathogenicGRCh37Chr 2, 166852629: 166852629
224NM_001165963.1(SCN1A): c.5436G> A (p.Trp1812Ter)single nucleotide variantPathogenicGRCh37Chr 2, 166848349: 166848349
225SCN1ANM_001165963.1(SCN1A): c.992dupT (p.Leu331Phefs)duplicationPathogenicGRCh37Chr 2, 166905432: 166905432
226GABRA1NM_000806.5(GABRA1): c.902G> A (p.Arg301Lys)single nucleotide variantPathogenicGRCh38Chr 5, 161895711: 161895711
227NM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu)single nucleotide variantPathogenicrs397514458GRCh37Chr 2, 166848779: 166848779
228SCN1ANM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly)single nucleotide variantPathogenicrs397514459GRCh37Chr 2, 166895938: 166895938
229STXBP1NM_003165.3(STXBP1): c.1631G> A (p.Gly544Asp)single nucleotide variantPathogenicrs121918317GRCh37Chr 9, 130444768: 130444768
230STXBP1NM_003165.3(STXBP1): c.539G> A (p.Cys180Tyr)single nucleotide variantPathogenicrs121918318GRCh37Chr 9, 130425593: 130425593
231STXBP1NM_003165.3(STXBP1): c.1328T> G (p.Met443Arg)single nucleotide variantPathogenicrs121918319GRCh37Chr 9, 130439001: 130439001
232STXBP1NM_003165.3(STXBP1): c.251T> A (p.Val84Asp)single nucleotide variantPathogenicrs121918320GRCh37Chr 9, 130422313: 130422313
233STXBP1NM_003165.3(STXBP1): c.169+1G> Asingle nucleotide variantPathogenicrs587776641GRCh37Chr 9, 130416076: 130416076
234SCN1ANM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121917957GRCh37Chr 2, 166904177: 166904177
235SCN1ANM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys)single nucleotide variantPathogenicrs121917929GRCh37Chr 2, 166903480: 166903480
236SCN1ANM_006920.4(SCN1A): c.1178G> A (p.Arg393His)single nucleotide variantPathogenicrs121917927GRCh37Chr 2, 166903479: 166903479
237SCN1ANM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly)single nucleotide variantPathogenicrs121917990GRCh37Chr 2, 166900346: 166900346
238SCN1ANM_006920.4(SCN1A): c.2804G> A (p.Arg935His)single nucleotide variantPathogenicrs121917971GRCh37Chr 2, 166894395: 166894395
239SCN1ANM_006920.4(SCN1A): c.301C> T (p.Arg101Trp)single nucleotide variantPathogenicrs121917965GRCh37Chr 2, 166915162: 166915162
240SCN1ANM_006920.4(SCN1A): c.302G> A (p.Arg101Gln)single nucleotide variantPathogenicrs121917918GRCh37Chr 2, 166915161: 166915161
241NM_006920.4(SCN1A): c.3701G> A (p.Arg1234Gln)single nucleotide variantPathogenicrs121917912GRCh37Chr 2, 166868764: 166868764
242NM_006920.4(SCN1A): c.3970G> A (p.Val1324Met)single nucleotide variantPathogenicrs121917960GRCh37Chr 2, 166859263: 166859263
243NM_006920.4(SCN1A): c.4135G> A (p.Val1379Met)single nucleotide variantPathogenicrs121917986GRCh37Chr 2, 166859098: 166859098
244NM_006920.4(SCN1A): c.4352A> G (p.Tyr1451Cys)single nucleotide variantPathogenicrs121917962GRCh37Chr 2, 166854639: 166854639
245NM_006920.4(SCN1A): c.4729T> C (p.Cys1577Arg)single nucleotide variantPathogenicrs121917919GRCh37Chr 2, 166850746: 166850746
246NM_006920.4(SCN1A): c.4789G> T (p.Asp1597Tyr)single nucleotide variantPathogenicrs121917915GRCh37Chr 2, 166850686: 166850686
247NM_006920.4(SCN1A): c.4855G> A (p.Val1619Met)single nucleotide variantLikely pathogenicrs121917914GRCh37Chr 2, 166848897: 166848897
248NM_006920.4(SCN1A): c.4901G> A (p.Arg1634Gln)single nucleotide variantPathogenicrs121917976GRCh37Chr 2, 166848851: 166848851
249NM_006920.4(SCN1A): c.5113T> C (p.Cys1705Arg)single nucleotide variantPathogenicrs121917926GRCh37Chr 2, 166848639: 166848639
250NM_006920.4(SCN1A): c.5314G> A (p.Ala1772Thr)single nucleotide variantPathogenicrs121917980GRCh37Chr 2, 166848438: 166848438
251NM_006920.4(SCN1A): c.5315C> T (p.Ala1772Val)single nucleotide variantPathogenicrs121917921GRCh37Chr 2, 166848437: 166848437
252NM_006920.4(SCN1A): c.5732T> C (p.Ile1911Thr)single nucleotide variantLikely pathogenicrs121917981GRCh37Chr 2, 166848020: 166848020
253SCN1ANM_006920.4(SCN1A): c.677C> T (p.Thr226Met)single nucleotide variantPathogenicrs121917984GRCh37Chr 2, 166909379: 166909379
254SCN1ANM_006920.4(SCN1A): c.680T> G (p.Ile227Ser)single nucleotide variantPathogenicrs121917937GRCh37Chr 2, 166909376: 166909376
255SCN1ANM_006920.4(SCN1A): c.715G> A (p.Ala239Thr)single nucleotide variantPathogenicrs121917985GRCh37Chr 2, 166908478: 166908478
256SCN1ANM_006920.4(SCN1A): c.838T> C (p.Trp280Arg)single nucleotide variantPathogenicrs121917938GRCh37Chr 2, 166908355: 166908355
257SCN1ANM_006920.4(SCN1A): c.1216G> T (p.Val406Phe)single nucleotide variantPathogenicrs121918768GRCh37Chr 2, 166903441: 166903441
258SCN1ANM_006920.4(SCN1A): c.2552G> A (p.Arg851Gln)single nucleotide variantPathogenicrs121918785GRCh37Chr 2, 166895937: 166895937
259SCN1ANM_006920.4(SCN1A): c.269T> C (p.Phe90Ser)single nucleotide variantPathogenicrs121918733GRCh37Chr 2, 166915194: 166915194
260SCN1ANM_006920.4(SCN1A): c.272T> C (p.Ile91Thr)single nucleotide variantPathogenicrs121918734GRCh37Chr 2, 166915191: 166915191
261SCN1ANM_006920.4(SCN1A): c.2758C> T (p.Arg920Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121918788GRCh37Chr 2, 166894441: 166894441
262SCN1ANM_006920.4(SCN1A): c.2782C> T (p.His928Tyr)single nucleotide variantPathogenicrs121918736GRCh37Chr 2, 166894417: 166894417
263SCN1ANM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys)single nucleotide variantPathogenicrs121918775GRCh37Chr 2, 166894396: 166894396
264SCN1ANM_006920.4(SCN1A): c.2821T> G (p.Trp941Gly)single nucleotide variantPathogenicrs121918737GRCh37Chr 2, 166894378: 166894378
265NM_006920.4(SCN1A): c.3596C> A (p.Thr1199Lys)single nucleotide variantPathogenicrs121918738GRCh37Chr 2, 166870330: 166870330
266NM_006920.4(SCN1A): c.3745A> C (p.Thr1249Pro)single nucleotide variantPathogenicrs121918739GRCh37Chr 2, 166868720: 166868720
267NM_006920.4(SCN1A): c.3827T> C (p.Leu1276Pro)single nucleotide variantPathogenicrs121918740GRCh37Chr 2, 166868638: 166868638
268NM_006920.4(SCN1A): c.4265G> A (p.Gly1422Glu)single nucleotide variantPathogenicrs121918741GRCh37Chr 2, 166856273: 166856273
269NM_006920.4(SCN1A): c.4724G> A (p.Gly1575Glu)single nucleotide variantPathogenicrs121918742GRCh37Chr 2, 166850751: 166850751
270NM_006920.4(SCN1A): c.4909C> T (p.Arg1637Cys)single nucleotide variantPathogenicrs121918791GRCh37Chr 2, 166848843: 166848843
271NM_006920.4(SCN1A): c.4940C> T (p.Thr1647Met)single nucleotide variantPathogenicrs121917922GRCh37Chr 2, 166848812: 166848812
272NM_006920.4(SCN1A): c.5313C> G (p.Ile1771Met)single nucleotide variantPathogenicrs121918763GRCh37Chr 2, 166848439: 166848439
273NM_006920.4(SCN1A): c.5401T> G (p.Trp1801Gly)single nucleotide variantLikely pathogenicrs121918751GRCh37Chr 2, 166848351: 166848351
274NM_006920.4(SCN1A): c.5522T> C (p.Met1841Thr)single nucleotide variantPathogenicrs121918783GRCh37Chr 2, 166848230: 166848230
275SCN1ANM_006920.4(SCN1A): c.568T> C (p.Trp190Arg)single nucleotide variantPathogenicrs121918773GRCh37Chr 2, 166911182: 166911182
276SCN1ANM_006920.4(SCN1A): c.777C> A (p.Ser259Arg)single nucleotide variantPathogenicrs121918735GRCh37Chr 2, 166908416: 166908416
277SCN1ANM_006920.4(SCN1A): c.1029-1G> Csingle nucleotide variantPathogenicrs398123579GRCh37Chr 2, 166904279: 166904279
278SCN1ANM_006920.4(SCN1A): c.1162delT (p.Tyr388Ilefs)deletionPathogenicrs398123580GRCh37Chr 2, 166904145: 166904145
279SCN1ANM_006920.4(SCN1A): c.1766A> T (p.Asp589Val)single nucleotide variantLikely pathogenicrs398123584GRCh37Chr 2, 166900456: 166900456
280SCN1ANM_001165963.1(SCN1A): c.1837C> T (p.Arg613Ter)single nucleotide variantPathogenicrs398123585GRCh37Chr 2, 166900385: 166900385
281SCN1ANM_006920.4(SCN1A): c.2543G> A (p.Arg848His)single nucleotide variantPathogenicrs398123588GRCh37Chr 2, 166895946: 166895946
282NM_006920.4(SCN1A): c.3613G> A (p.Glu1205Lys)single nucleotide variantLikely pathogenicrs398123590GRCh37Chr 2, 166870313: 166870313
283NM_006920.4(SCN1A): c.4186C> T (p.Arg1396Ter)single nucleotide variantPathogenicrs398123593GRCh37Chr 2, 166859047: 166859047
284NM_006920.4(SCN1A): c.4251+2T> Csingle nucleotide variantPathogenicrs398123595GRCh37Chr 2, 166858980: 166858980
285NM_006920.4(SCN1A): c.5108T> C (p.Met1703Thr)single nucleotide variantLikely pathogenicrs121917949GRCh37Chr 2, 166848644: 166848644
286NM_006920.4(SCN1A): c.5506delC (p.Leu1836Serfs)deletionPathogenicrs398123599GRCh37Chr 2, 166848246: 166848246

Expression for genes affiliated with Dravet Syndrome

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Search GEO for disease gene expression data for Dravet Syndrome.

Pathways for genes affiliated with Dravet Syndrome

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GO Terms for genes affiliated with Dravet Syndrome

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Cellular components related to Dravet Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor complexGO:190271110.9GABRA1, GABRG2
2platelet alpha granuleGO:003109110.8SERPINE2, STXBP1
3sodium channel complexGO:003470610.6SCN1A, SCN1B, SCN2A
4node of RanvierGO:003326810.5SCN1A, SCN1B, SCN2A
5T-tubuleGO:003031510.3SCN1A, SCN1B, SCN2A, SLC8A1
6intercalated discGO:001470410.3SCN1A, SCN1B, SCN2A, SLC8A1
7voltage-gated sodium channel complexGO:000151810.3SCN1A, SCN1B, SCN2A, SCN3A, SCN9A
8membraneGO:00160208.8CLSTN1, GABRA1, GABRG2, PCDH19, SCN1A, SCN2A

Biological processes related to Dravet Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1gamma-aminobutyric acid signaling pathwayGO:000721410.8GABRA1, GABRG2
2membrane depolarization during cardiac muscle cell action potentialGO:008601210.6SCN1B, SLC8A1
3synaptic transmission, GABAergicGO:005193210.5GABRA1, GABRG2
4regulation of sodium ion transportGO:000202810.5NKAIN3, SLC8A1
5membrane depolarization during action potentialGO:008601010.3SCN1A, SCN2A, SCN3A, SCN9A
6neuronal action potentialGO:001922810.2SCN1A, SCN2A, SCN3A, SCN9A
7regulation of ion transmembrane transportGO:003476510.2SCN1A, SCN2A, SCN3A, SCN9A
8cellular response to histamineGO:007142010.2GABRA1, GABRG2
9regulation of membrane potentialGO:004239110.0GABRA1, GABRG2, SCN1A
10sodium ion transmembrane transportGO:00357259.9SCN1A, SCN1B, SCN2A, SCN3A, SCN9A, SLC8A1
11neuronal action potential propagationGO:00192279.9SCN1A, SCN1B
12post-embryonic developmentGO:00097919.9GABRG2, SCN9A, SLC8A1
13sodium ion transportGO:00068149.7SCN1A, SCN1B, SCN2A, SCN3A, SCN9A, SLC8A1
14ion transportGO:00068119.5GABRA1, GABRG2, SCN1A, SCN2A, SCN3A, SCN9A
15transmembrane transportGO:00550859.1ATP6V0C, GABRA1, GABRG2, SCN1A, SCN2A, SCN3A

Molecular functions related to Dravet Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1inhibitory extracellular ligand-gated ion channel activityGO:000523710.6GABRA1, GABRG2
2benzodiazepine receptor activityGO:000850310.6GABRA1, GABRG2
3GABA-A receptor activityGO:000489010.6GABRA1, GABRG2
4voltage-gated sodium channel activityGO:000524810.0SCN1A, SCN1B, SCN2A, SCN3A, SCN9A
5ion channel activityGO:00052169.8SCN1A, SCN2A, SCN3A, SCN9A

Sources for Dravet Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet