MCID: DRV001
MIFTS: 64

Dravet Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Dravet Syndrome

About this section

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
Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures 65
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-M 67
Smeb-O 67
Eiee6 67
Smeb 67
Sme 45
Ds 51

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

HPO:

61
dravet syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM49 607208
Disease Ontology10 DOID:0060171
Orphanet51 33069
ICD10 via Orphanet28 G40.4
MeSH36 D004831
UMLS65 C0751122, C3501832

Summaries for Dravet Syndrome

About this section
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 gabrg2-related dravet syndrome, and has symptoms including ataxia, global developmental delay and mental deterioration. An important gene associated with Dravet Syndrome is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways are Synaptic Neurotransmission Pathways: GABAergic Inhibition and Benzodiazepine Pathway, Pharmacodynamics. Affiliated tissues include brain, endothelial and t cells, and related mouse phenotypes are mortality/aging and behavior/neurological.

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

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.

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

Wikipedia:68 Dravet syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a type of epilepsy with... more...

Related Diseases for Dravet Syndrome

About this section

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 221)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy, generalized, with febrile seizures plus, type 231.2MGR6, SCN1A
2gabrg2-related dravet syndrome12.3
3scn9a-related dravet syndrome12.3
4scn1a-related intractable childhood epilepsy with generalized tonic-clonic seizures11.4
5scn1a-related severe myoclonic epilepsy in infancy11.3
6generalized epilepsy with febrile seizures plus10.6
7brugada syndrome 510.6SCN1A, SCN1B
8febrile ulceronecrotic mucha-habermann disease10.5PCDH19, SCN1A
9scn9a-related inherited erythromelalgia10.5SCN1A, SCN1B, SCN9A
10hypothalamic hamartomas with gelastic seizures10.5GABRG2, SCN1A
11copper deficiency, familial benign10.5GABRG2, SCN1A, SCN1B
12floppy infant syndrome10.4GABRG2, SCN1A, SCN1B, SCN9A
13vaginal disease10.4SCN3A, SCN9A
14migraine, familial hemiplegic, 310.4MGR6, SCN1A
153-methylcrotonyl-coa carboxylase deficiency10.4PCDH19, SCN1A, SCN2A, STXBP1
16urethral stricture10.4GABRA1, GABRG2, SCN1A, SCN1B
17epilepsy syndrome10.4GABRA1, GABRG2, SCN1B
18epileptic hemiplegia10.4PCDH19, SCN1A, SCN2A, STXBP1
19severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome10.4ATP6V0C, TBC1D24
20phosphorus metabolism disease10.4SCN1A, STXBP1
21epileptic encephalopathy, early infantile, 110.4
22acinar cell cystadenocarcinoma10.3SCN1A, SCN2A, TBC1D24
23malignant mixed mullerian tumor10.3SCN1A, TBC1D24
24hiv-110.3
25endotheliitis10.3
26idiopathic generalized epilepsy10.3GABRA1, GABRG2, PCDH19, SCN1A, SCN1B
27adolescence-adult electroclinical syndrome10.3GABRA1, GABRG2, TBC1D24
28corneal dystrophy, schnyder type10.3CLSTN1, SLC8A1
29olivopontocerebellar atrophy10.3SCN2A, TBC1D24
30shaken baby syndrome10.3SCN1A, SCN2A
31melanoma10.3
32cystic lymphangioma10.3GABRG2, SCN1A, SCN1B, TBC1D24
33infancy electroclinical syndrome10.3SCN1A, SCN2A, STXBP1, TBC1D24
34early onset absence epilepsy10.3GABRA1, GABRG2, SCN2A, TBC1D24
35kashin-beck disease10.2SCN2A, STXBP1, TBC1D24
36hemoglobin zurich10.2MGR6, SCN1A
37nonsyndromic deafness10.2CHD2, GABRA1, SCN1A, TBC1D24
38prothrombin deficiency10.2GABRG2, SCN1A, SCN3A, TBC1D24
39leukemia10.2
40thyroiditis10.2
41neuropathy10.2
42aneurysm10.2
43epilepsy, generalized, with febrile seizures plus, type 510.2GABRA1, GABRG2, SCN1A, SCN2A, TBC1D24
44variola major10.2SCN1A, SCN2A
45rheumatoid arthritis10.1
46prostate cancer10.1
47breast cancer10.1
48obesity10.1
49osteoporosis10.1
50arthritis10.1

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



Diseases related to dravet syndrome

Symptoms for Dravet Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

607208

Clinical features from OMIM:

607208

HPO human phenotypes related to Dravet Syndrome:

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

Drugs & Therapeutics for Dravet Syndrome

About this section

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

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1AnticonvulsantsPhase 4, Phase 32249
2StiripentolPhase 4749763-96-4
3
Clobazamapproved, illicitPhase 31922316-47-82789
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
4Pharmaceutical SolutionsPhase 3, Phase 27004
5Phase 3, Phase 2
6Serotonin AgentsPhase 32668
7Serotonin Uptake InhibitorsPhase 31369
8
SerotoninPhase 3314750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
9Neurotransmitter AgentsPhase 314795
10Neurotransmitter Uptake InhibitorsPhase 32857
11StrawberryNutraceuticalPhase 3, Phase 275
12
VerapamilapprovedPhase 211752-53-92520
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
13Vasodilator AgentsPhase 22926
14Anti-Arrhythmia AgentsPhase 22371
15calcium channel blockersPhase 21743
16Calcium, DietaryPhase 24678

Interventional clinical trials:

(show all 20)
idNameStatusNCT IDPhase
1Stiripentol in Dravet SyndromeNo longer availableNCT01533506Phase 4
2Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet SyndromeCompletedNCT02091375Phase 3
3A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet SyndromeRecruitingNCT02224703Phase 3
4A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCL) in Children and Young Adults With Dravet SyndromeRecruitingNCT02682927Phase 3
5Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure DisorderEnrolling by invitationNCT02318602Phase 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
12Ataluren for Nonsense Mutation in CDKL5 and Dravet SyndromeNot yet recruitingNCT02758626Phase 2
13Cannabidiol (CBD) to 27 Patients (Aged 2 Years - 19 Years) With Drug Resistant EpilepsyActive, not recruitingNCT02286986Phase 1
14Cardiac Arrhythmias in Dravet SyndromeRecruitingNCT02415686
15Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet PopulationRecruitingNCT02229032
16Genetics of Severe Early Onset EpilepsiesRecruitingNCT01858285
17Risk Factors for Sudden Unexplained Death in EpilepsyRecruitingNCT01662453
18Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic EncephalopathiesAvailableNCT02239276
19Compassionate Use of Stiripentol in Dravet SyndromeAvailableNCT01835314
20Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet SyndromeAvailableNCT01983722

Search NIH Clinical Center for Dravet Syndrome

Genetic Tests for Dravet Syndrome

About this section

Anatomical Context for Dravet Syndrome

About this section

MalaCards organs/tissues related to Dravet Syndrome:

33
Brain, Endothelial, T cells, Prostate, Liver, Pancreas, Lung

Animal Models for Dravet Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Dravet Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.4ATP6V0C, CHD2, GABRA1, GABRG2, KIF1B, SCN1A
2MP:00053868.2ABTB2, CHD2, CLSTN1, GABRA1, GABRG2, KIF1B

Publications for Dravet Syndrome

About this section

Articles related to Dravet Syndrome:

(show top 50)    (show all 227)
idTitleAuthorsYear
1
Late Stenotrophomonas maltophilia pacemaker infective endocarditis. (25722039)
2015
2
Immunopathogenic Background of Pars Planitis. (26438050)
2015
3
Prevalence of rickets-like bone deformities in rural Gambian children. (25871880)
2015
4
Medications for Parkinson's disease. (25395818)
2014
5
Early-onset Alzheimer's disease in two Iranian families: a genetic study. (25138979)
2014
6
Expressions of neuropeptide Y and Y1 receptor in subcutaneous and visceral fat tissues in normal weight and obese humans and their correlations with clinical parameters and peripheral metabolic factors. (23838112)
2013
7
Mirizzi syndrome: history, current knowledge and proposal of a simplified classification. (23002333)
2012
8
Pain in experimental autoimmune encephalitis: a comparative study between different mouse models. (23039175)
2012
9
Water related otitis externa. (23213950)
2012
10
Site-specific circadian expression of leptin and its receptor in human adipose tissue. (22411388)
2011
11
Venous anomalies and horseshoe kidney. A minefield in open vascular surgery. (22067928)
2011
12
Pulmonary edema during cesarean delivery in a patient with a mediastinal mass. (21132475)
2011
13
Rapidly developing gas gangrene due to a simple puncture wound. (20531129)
2010
14
Association of somatostatin receptor 2 immunohistochemical expression with [111In]-DTPA octreotide scintigraphy and [68Ga]-DOTATOC PET/CT in neuroendocrine tumors. (20422506)
2010
15
Membrane microvesicles as actors in the establishment of a favorable prostatic tumoral niche: a role for activated fibroblasts and CX3CL1-CX3CR1 axis. (19155311)
2009
16
Treatment of hereditary angioedema with plasma-derived C1 inhibitor. (19209279)
2008
17
Effect of long-term cabergoline therapy on the immunological pattern and pituitary function of patients with idiopathic hyperprolactinaemia positive for antipituitary antibodies. (18221394)
2008
18
Phenylalanine 4-monooxygenase and the S-oxidation of S-carboxymethyl-L-cysteine by human cytosolic fractions. (19326770)
2008
19
CLOCK gene T3111C polymorphism is associated with Japanese schizophrenics: a preliminary study. (17116390)
2007
20
Erythropoietin and progression of CKD. (17943140)
2007
21
Paxillin phosphorylation and integrin expression in osteoblasts infected by Porphyromonas gingivalis. (16620778)
2006
22
Relationship between genetic polymorphisms of metabolizing enzymes CYP2E1, GSTM1 and Kazakh's esophageal squamous cell cancer in Xinjiang, China. (15968714)
2005
23
Re: Does bladder preservation (as a surgical principle) lead to retaining bladder function in bladder/prostate rhabdomyosarcoma? Results from Intergroup Rhabdomyosarcoma Study IV. (15540797)
2004
24
Trends and occupational associations in incidence of hospitalized pulmonary sarcoidosis and other lung diseases in Navy personnel: a 27-year historical prospective study, 1975-2001. (15539709)
2004
25
Stem cell factor enhances erythropoietin-mediated transactivation of signal transducer and activator of transcription 5 (STAT5) via the PKA/CREB pathway. (12829027)
2003
26
The influence of recombinant human growth hormones on the systemic metabolism after severe burn]. (12460519)
2002
27
Red blood cells from patients with homozygous sickle cell disease provide a catalytic surface for factor Va inactivation by activated protein C. (11972526)
2002
28
A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria. (11980567)
2002
29
Infantile McCune-Albright syndrome. (11841638)
2001
30
The interaction of titin and alpha-actinin is controlled by a phospholipid-regulated intramolecular pseudoligand mechanism. (11101506)
2000
31
Estrogen-induced activation of mitogen-activated protein kinase in cerebral cortical explants: convergence of estrogen and neurotrophin signaling pathways. (9952396)
1999
32
Exclusion of angiotensinogen gene in molecular basis of human hypertension: sibpair linkage and association analyses in Australian anglo-caucasians. (10528248)
1999
33
Calcified splenic artery aneurysm discovered during coronary arteriography. (10376508)
1999
34
Impairment of plasma fibrinolysis in young survivors of myocardial infarction with silent ischaemia. (9663707)
1998
35
The molecular basis of von Hippel-Lindau disease. (9205944)
1997
36
The role of N-terminal glycosylation in the human oxytocin receptor. (9433921)
1997
37
Testicular cancer in association with developmental renal anomalies and hypospadias. (8560668)
1996
38
Protein kinase C isozymes and substrates. (8791416)
1996
39
Phaeohyphomycosis. (8821168)
1996
40
Interferon-gamma and interleukin-10 have cross-regulatory roles in modulating the class I and class II MHC-mediated presentation of epitopes of Listeria monocytogenes by infected macrophages. (8836921)
1996
41
Effect of 443c81, an inhaled mu-opioid receptor agonist in asthma. (8187029)
1994
42
CYFRA 21-1: a new marker of epidermoid cancer of the bronchi. Comparison with 3 other markers]. (7692432)
1993
43
Effects of cyclosporin A on resident and passenger immune cells of normal human skin and UV-induced erythema reactions. (1362075)
1992
44
Detection of BCR-ABL proteins in blood cells of benign phase chronic myelogenous leukemia patients. (2032243)
1991
45
Cloning of the gene encoding the delta subunit of the human T-cell receptor reveals its physical organization within the alpha-subunit locus and its involvement in chromosome translocations in T-cell malignancy. (2836865)
1988
46
Tropical pyomyositis: delineation by gray scale ultrasound. (6385742)
1984
47
Postural laterality in torticollis and torsion dystonia. (7334390)
1981
48
THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE). (14162531)
1964
49
Hypervitaminosis A; a case report. (18872296)
1948
50

Variations for Dravet Syndrome

About this section

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 274)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His)single nucleotide variantPathogenicrs121918622GRCh37Chr 2, 166848842: 166848842
2SCN1ASCN1A, 2-BP DEL, 657AGdeletionPathogenic
3SCN1ANM_001165963.1(SCN1A): c.664C> T (p.Arg222Ter)single nucleotide variantPathogenicrs121918624GRCh37Chr 2, 166909392: 166909392
4SCN1ANM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe)single nucleotide variantPathogenicrs121918625GRCh37Chr 2, 166893031: 166893031
5NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile)single nucleotide variantPathogenicrs121918629GRCh37Chr 2, 166848659: 166848659
6NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe)single nucleotide variantPathogenicrs121918630GRCh37Chr 2, 166850677: 166850677
7SCN1ASCN1A, 1-BP DEL, 2528GdeletionPathogenic
8SCN1ASCN1A, DEL EX21-26deletionPathogenic
9SCN1ASCN1A, 6.5-KB DELdeletionPathogenic
10SCN1ASCN1A, 1-BP DEL, 3608AdeletionPathogenic
11NM_001165963.1(SCN1A): c.3733C> T (p.Arg1245Ter)single nucleotide variantPathogenicrs727504136GRCh38Chr 2, 166012255: 166012255
12SCN1ANM_006920.4(SCN1A): c.2557-2A> Gsingle nucleotide variantPathogenicrs727504140GRCh37Chr 2, 166894644: 166894644
13SCN1ANM_001165963.1(SCN1A): c.2420dupT (p.Thr808Hisfs)duplicationPathogenicrs786200989GRCh37Chr 2, 166896102: 166896102
14SCN1ANM_001165963.1(SCN1A): c.694+5G> Csingle nucleotide variantPathogenicrs727504142GRCh37Chr 2, 166909357: 166909357
15SCN1ANM_001165963.1(SCN1A): c.1118delT (p.Leu373Cysfs)deletionPathogenicrs794726695GRCh37Chr 2, 166904189: 166904189
16NM_001165963.1(SCN1A): c.4351C> A (p.Pro1451Thr)single nucleotide variantPathogenicrs794726696GRCh38Chr 2, 165998163: 165998163
17SCN1ANM_001165963.1(SCN1A): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs794726697GRCh37Chr 2, 166894639: 166894639
18NM_001165963.1(SCN1A): c.5003C> G (p.Pro1668Arg)single nucleotide variantPathogenicrs794726698GRCh37Chr 2, 166848782: 166848782
19NM_001165963.1(SCN1A): c.4302G> A (p.Trp1434Ter)single nucleotide variantPathogenicrs794726699GRCh37Chr 2, 166856269: 166856269
20NM_001165963.1(SCN1A): c.3879+1G> Tsingle nucleotide variantPathogenicrs794726700GRCh37Chr 2, 166868618: 166868618
21SCN1ANM_001165963.1(SCN1A): c.1624C> T (p.Arg542Ter)single nucleotide variantPathogenicrs138877187GRCh37Chr 2, 166901591: 166901591
22NM_001165963.1(SCN1A): c.4879_4883dupAAGTA (p.Tyr1628Terfs)duplicationPathogenicrs794726701GRCh38Chr 2, 165992392: 165992396
23NM_001165963.1(SCN1A): c.5250_5251insGG (p.Ser1751Glyfs)insertionPathogenicrs794726702GRCh37Chr 2, 166848534: 166848535
24NM_001165963.1(SCN1A): c.5250_5252delCTC (p.Ser1750_Ser1751delinsArg)deletionPathogenicrs794726703GRCh38Chr 2, 165992023: 165992025
25SCN1ANM_001165963.1(SCN1A): c.2044_6030deldeletionPathogenic
26SCN1ANM_001165963.1(SCN1A): c.1667delT (p.Leu556Cysfs)deletionPathogenicrs794726704GRCh37Chr 2, 166900555: 166900555
27NM_001165963.1(SCN1A): c.4244_4245delTT (p.Phe1415Terfs)deletionPathogenicrs794726705GRCh38Chr 2, 166002511: 166002512
28NM_001165963.1(SCN1A): c.3726_3727insAT (p.Asp1243Metfs)insertionPathogenicrs794726706GRCh37Chr 2, 166868771: 166868772
29NM_001165963.1(SCN1A): c.4088T> A (p.Ile1363Asn)single nucleotide variantPathogenicrs794726707GRCh38Chr 2, 166002668: 166002668
30SCN1ANM_001165963.1(SCN1A): c.2584C> T (p.Arg862Ter)single nucleotide variantPathogenicrs397514459GRCh37Chr 2, 166895938: 166895938
31SCN1ANM_001165963.1(SCN1A): c.2879T> G (p.Met960Arg)single nucleotide variantPathogenicrs794726708GRCh37Chr 2, 166894353: 166894353
32NM_001165963.1(SCN1A): c.5536A> T (p.Lys1846Ter)single nucleotide variantPathogenicrs372098964GRCh37Chr 2, 166848249: 166848249
33NM_001165963.1(SCN1A): c.3802_3812delCTTCTAAAATG (p.Leu1268Glyfs)deletionPathogenicrs794726709GRCh38Chr 2, 166012176: 166012186
34NM_001165963.1(SCN1A): c.3637C> T (p.Arg1213Ter)single nucleotide variantPathogenicrs794726710GRCh37Chr 2, 166870322: 166870322
35SCN1ANM_001165963.1(SCN1A): c.337C> A (p.Pro113Thr)single nucleotide variantPathogenicrs794726711GRCh37Chr 2, 166915126: 166915126
36SCN1ANM_001165963.1(SCN1A): c.2588T> G (p.Leu863Trp)single nucleotide variantPathogenicrs794726712GRCh37Chr 2, 166895934: 166895934
37SCN1ANM_001165963.1(SCN1A): c.1076A> G (p.Asn359Ser)single nucleotide variantPathogenicrs794726713GRCh37Chr 2, 166904231: 166904231
38SCN1ANM_001165963.1(SCN1A): c.2946+1_2946+2delGTdeletionPathogenicrs794726714GRCh37Chr 2, 166894284: 166894285
39SCN1ANM_001165963.1(SCN1A): c.2946delG (p.Val983Serfs)deletionPathogenicrs794726715GRCh37Chr 2, 166894286: 166894286
40SCN1ANM_001165963.1(SCN1A): c.2876G> A (p.Cys959Tyr)single nucleotide variantPathogenicrs794726716GRCh37Chr 2, 166894356: 166894356
41SCN1ANM_001165963.1(SCN1A): c.1659dupC (p.Gln554Profs)duplicationPathogenicrs794726717GRCh37Chr 2, 166901556: 166901556
42SCN1ANM_001165963.1(SCN1A): c.2792G> A (p.Arg931His)single nucleotide variantPathogenicrs794726718GRCh37Chr 2, 166894440: 166894440
43NM_001165963.1(SCN1A): c.4906C> T (p.Arg1636Ter)single nucleotide variantPathogenicrs199727342GRCh38Chr 2, 165992369: 165992369
44SCN1ANM_001165963.1(SCN1A): c.675G> C (p.Lys225Asn)single nucleotide variantPathogenicrs794726719GRCh37Chr 2, 166909381: 166909381
45SCN1ANM_001165963.1(SCN1A): c.1072C> T (p.Pro358Ser)single nucleotide variantPathogenicrs121917923GRCh37Chr 2, 166904235: 166904235
46NM_001165963.1(SCN1A): c.3615G> A (p.Trp1205Ter)single nucleotide variantPathogenicrs794726720GRCh37Chr 2, 166870344: 166870344
47SCN1ANM_001165963.1(SCN1A): c.2728C> A (p.Gln910Lys)single nucleotide variantPathogenicrs794726721GRCh37Chr 2, 166894504: 166894504
48SCN1ANM_001165963.1(SCN1A): c.474_602del129 (p.Thr160_Tyr202del)deletionPathogenicGRCh37Chr 2, 166911148: 166911276
49NM_001165963.1(SCN1A): c.5264A> G (p.Asp1755Gly)single nucleotide variantPathogenicrs794726722GRCh37Chr 2, 166848521: 166848521
50NM_001165963.1(SCN1A): c.3970_3971dupCT (p.Arg1325Terfs)duplicationPathogenicrs794726723GRCh37Chr 2, 166866260: 166866261
51SCN1ANM_001165963.1(SCN1A): c.659_662delTTCT (p.Val220Alafs)deletionPathogenicrs794726724GRCh37Chr 2, 166909394: 166909397
52NM_001165963.1(SCN1A): c.3763G> C (p.Ala1255Pro)single nucleotide variantPathogenicrs777939538GRCh37Chr 2, 166868735: 166868735
53SCN1ANM_001165963.1(SCN1A): c.1199T> A (p.Met400Lys)single nucleotide variantPathogenicrs794726725GRCh37Chr 2, 166903458: 166903458
54NM_001165963.1(SCN1A): c.5536_5539delAAAC (p.Lys1846Serfs)deletionPathogenicrs794726726GRCh37Chr 2, 166848246: 166848249
55SCN1ANM_001165963.1(SCN1A): c.2837G> C (p.Arg946Pro)single nucleotide variantPathogenicrs121917971GRCh37Chr 2, 166894395: 166894395
56NM_001165963.1(SCN1A): c.3730C> T (p.Gln1244Ter)single nucleotide variantPathogenicrs794726727GRCh37Chr 2, 166868768: 166868768
57NM_001165963.1(SCN1A): c.3455C> A (p.Ser1152Ter)single nucleotide variantPathogenicrs794726728GRCh38Chr 2, 166015702: 166015702
58NM_001165963.1(SCN1A): c.3477delC (p.Ile1159Metfs)deletionPathogenicrs794726729GRCh37Chr 2, 166872190: 166872190
59SCN1ANM_001165963.1(SCN1A): c.2134C> T (p.Arg712Ter)single nucleotide variantPathogenicrs794726730GRCh37Chr 2, 166898844: 166898844
60NM_001165963.1(SCN1A): c.3828T> A (p.Tyr1276Ter)single nucleotide variantPathogenicrs794726731GRCh38Chr 2, 166012160: 166012160
61SCN1ANM_001165963.1(SCN1A): c.1136T> A (p.Met379Lys)single nucleotide variantPathogenicrs794726732GRCh37Chr 2, 166904171: 166904171
62NM_001165963.1(SCN1A): c.3439G> T (p.Glu1147Ter)single nucleotide variantPathogenicrs794726733GRCh38Chr 2, 166015718: 166015718
63NM_001165963.1(SCN1A): c.4338+4A> Csingle nucleotide variantPathogenicrs794726734GRCh38Chr 2, 165999719: 165999719
64NM_001165963.1(SCN1A): c.3705+2T> Asingle nucleotide variantPathogenicrs794726735GRCh37Chr 2, 166870252: 166870252
65SCN1ANM_001165963.1(SCN1A): c.1738C> T (p.Arg580Ter)single nucleotide variantPathogenicrs794726736GRCh38Chr 2, 166043974: 166043974
66NM_001165963.1(SCN1A): c.5780G> C (p.Arg1927Thr)single nucleotide variantPathogenicrs794726737GRCh38Chr 2, 165991495: 165991495
67SCN1ANM_001165963.1(SCN1A): c.121A> T (p.Lys41Ter)single nucleotide variantPathogenicrs764444350GRCh37Chr 2, 166930011: 166930011
68SCN1ANM_001165963.1(SCN1A): c.2523_2524delGC (p.Leu842Terfs)deletionPathogenicrs794726738GRCh37Chr 2, 166895998: 166895999
69NM_001165963.1(SCN1A): c.5674C> T (p.Arg1892Ter)single nucleotide variantPathogenicrs794726739GRCh37Chr 2, 166848111: 166848111
70NM_001165963.1(SCN1A): c.5014A> C (p.Asn1672His)single nucleotide variantPathogenicrs794726740GRCh37Chr 2, 166848771: 166848771
71NM_001165963.1(SCN1A): c.5349_5352dupGGTC (p.Ile1785Glyfs)duplicationPathogenicrs794726741GRCh37Chr 2, 166848433: 166848436
72SCN1ANM_001165963.1(SCN1A): c.308G> T (p.Ser103Ile)single nucleotide variantPathogenicrs760361423GRCh37Chr 2, 166915155: 166915155
73SCN1ANM_001165963.1(SCN1A): c.2213G> T (p.Trp738Leu)single nucleotide variantPathogenicrs794726742GRCh37Chr 2, 166897943: 166897943
74SCN1ANM_001165963.1(SCN1A): c.2261G> T (p.Trp754Leu)single nucleotide variantPathogenicrs794726743GRCh37Chr 2, 166897895: 166897895
75NM_001165963.1(SCN1A): c.3705+1G> Asingle nucleotide variantPathogenicrs794726744GRCh37Chr 2, 166870253: 166870253
76NM_001165963.1(SCN1A): c.4188C> A (p.Cys1396Ter)single nucleotide variantPathogenicrs794726745GRCh38Chr 2, 166002568: 166002568
77SCN1ANM_001165963.1(SCN1A): c.530G> T (p.Gly177Val)single nucleotide variantPathogenicrs121918770GRCh37Chr 2, 166911220: 166911220
78SCN1ANM_001165963.1(SCN1A): c.2985T> G (p.Phe995Leu)single nucleotide variantPathogenicrs794726746GRCh37Chr 2, 166893002: 166893002
79SCN1ANM_001165963.1(SCN1A): c.2071A> T (p.Lys691Ter)single nucleotide variantPathogenicrs794726747GRCh38Chr 2, 166042397: 166042397
80NM_001165963.1(SCN1A): c.5082T> G (p.Tyr1694Ter)single nucleotide variantPathogenicrs794726748GRCh38Chr 2, 165992193: 165992193
81SCN1ANM_001165963.1(SCN1A): c.1662+1G> Tsingle nucleotide variantPathogenicrs794726749GRCh37Chr 2, 166901552: 166901552
82SCN1ANM_001165963.1(SCN1A): c.2299_2302dupGACC (p.Pro768Argfs)duplicationPathogenicrs794726750GRCh37Chr 2, 166897854: 166897857
83SCN1ANM_001165963.1(SCN1A): c.751delA (p.Met251Terfs)deletionPathogenicrs794726751GRCh37Chr 2, 166908442: 166908442
84NM_001165963.1(SCN1A): c.4573C> T (p.Arg1525Ter)single nucleotide variantPathogenicrs794726752GRCh38Chr 2, 165996021: 165996021
85NM_001165963.1(SCN1A): c.5656C> T (p.Arg1886Ter)single nucleotide variantPathogenicrs779614747GRCh38Chr 2, 165991619: 165991619
86SCN1ANM_001165963.1(SCN1A): c.1146C> A (p.Asp382Glu)single nucleotide variantPathogenicrs794726753GRCh37Chr 2, 166904161: 166904161
87NM_001165963.1(SCN1A): c.5010_5013delGTTT (p.Phe1671Thrfs)deletionPathogenicrs794726754GRCh38Chr 2, 165992262: 165992265
88SCN1ANM_001165963.1(SCN1A): c.728C> A (p.Ser243Tyr)single nucleotide variantPathogenicrs794726755GRCh37Chr 2, 166908465: 166908465
89SCN1ANM_001165963.1(SCN1A): c.3062_3066delAAGGA (p.Lys1021Serfs)deletionPathogenicrs794726756GRCh37Chr 2, 166892921: 166892925
90SCN1ANM_001165963.1(SCN1A): c.2353A> G (p.Met785Val)single nucleotide variantPathogenicrs767045134GRCh37Chr 2, 166897803: 166897803
91NM_001165963.1(SCN1A): c.4611_4645dup35 (p.Ile1549Thrfs)duplicationPathogenicrs794726757GRCh37Chr 2, 166850863: 166850897
92NM_001165963.1(SCN1A): c.5003delC (p.Pro1668Leufs)deletionPathogenicrs794726758GRCh37Chr 2, 166848782: 166848782
93SCN1ANM_001165963.1(SCN1A): c.1265T> C (p.Val422Ala)single nucleotide variantPathogenicrs121917989GRCh37Chr 2, 166903392: 166903392
94NM_001165963.1(SCN1A): c.4933C> T (p.Arg1645Ter)single nucleotide variantPathogenicrs794726759GRCh38Chr 2, 165992342: 165992342
95NM_001165963.1(SCN1A): c.4997C> T (p.Ser1666Phe)single nucleotide variantPathogenicrs794726760GRCh37Chr 2, 166848788: 166848788
96NM_001165963.1(SCN1A): c.4547C> G (p.Ser1516Trp)single nucleotide variantPathogenicrs139300715GRCh37Chr 2, 166852557: 166852557
97SCN1ANM_001165963.1(SCN1A): c.2690T> C (p.Leu897Ser)single nucleotide variantPathogenicrs794726761GRCh37Chr 2, 166894542: 166894542
98SCN1ANM_001165963.1(SCN1A): c.264+5G> Csingle nucleotide variantPathogenicrs794726762GRCh38Chr 2, 166073353: 166073353
99NM_001165963.1(SCN1A): c.5222G> A (p.Cys1741Tyr)single nucleotide variantPathogenicrs794726763GRCh38Chr 2, 165992053: 165992053
100SCN1ANM_001165963.1(SCN1A): c.384-1C> Gsingle nucleotide variantPathogenicrs794726764GRCh37Chr 2, 166913011: 166913011
101SCN1ANM_001165963.1(SCN1A): c.1170+1G> Tsingle nucleotide variantPathogenicrs794726765GRCh37Chr 2, 166904136: 166904136
102SCN1ANM_001165963.1(SCN1A): c.2303C> T (p.Pro768Leu)single nucleotide variantPathogenicrs794726766GRCh37Chr 2, 166897853: 166897853
103SCN1ANM_001165963.1(SCN1A): c.1055_1056delTG (p.Val352Glufs)deletionPathogenicrs794726767GRCh37Chr 2, 166904251: 166904252
104SCN1ANM_001165963.1(SCN1A): c.1048A> G (p.Met350Val)single nucleotide variantPathogenicrs794726768GRCh37Chr 2, 166904259: 166904259
105NM_001165963.1(SCN1A): c.5470G> T (p.Glu1824Ter)single nucleotide variantPathogenicrs794726769GRCh37Chr 2, 166848315: 166848315
106NM_001165963.1(SCN1A): c.3706G> C (p.Ala1236Pro)single nucleotide variantPathogenicrs794726770GRCh37Chr 2, 166868792: 166868792
107SCN1ANM_001165963.1(SCN1A): c.769T> C (p.Cys257Arg)single nucleotide variantLikely pathogenic, Pathogenicrs794726771GRCh37Chr 2, 166908424: 166908424
108SCN1ANM_001165963.1(SCN1A): c.2946+1G> Tsingle nucleotide variantPathogenicrs794726772GRCh37Chr 2, 166894285: 166894285
109SCN1ANM_001165963.1(SCN1A): c.1662+3A> Gsingle nucleotide variantPathogenicrs794726773GRCh37Chr 2, 166901550: 166901550
110NM_001165963.1(SCN1A): c.3487delG (p.Val1163Terfs)deletionPathogenicrs794726774GRCh37Chr 2, 166872180: 166872180
111SCN1ANM_001165963.1(SCN1A): c.2589+3A> Tsingle nucleotide variantPathogenicrs794726775GRCh37Chr 2, 166895930: 166895930
112SCN1ANM_001165963.1(SCN1A): c.1183_1184delGC (p.Ala395Trpfs)deletionPathogenicrs794726776GRCh37Chr 2, 166903473: 166903474
113SCN1ANM_001165963.1(SCN1A): c.1182_1183insA (p.Ala395Serfs)insertionPathogenicrs794726777GRCh37Chr 2, 166903474: 166903475
114SCN1ANM_001165963.1(SCN1A): c.1834C> T (p.Arg612Ter)single nucleotide variantPathogenicrs794726778GRCh37Chr 2, 166900388: 166900388
115NM_001165963.1(SCN1A): c.4086C> G (p.Ser1362Arg)single nucleotide variantPathogenicrs794726779GRCh38Chr 2, 166002670: 166002670
116NM_001165963.1(SCN1A): c.5404G> T (p.Glu1802Ter)single nucleotide variantPathogenicrs794726780GRCh37Chr 2, 166848381: 166848381
117NM_001165963.1(SCN1A): c.5461C> T (p.Gln1821Ter)single nucleotide variantPathogenicrs794726781GRCh37Chr 2, 166848324: 166848324
118SCN1ANM_001165963.1(SCN1A): c.1033T> C (p.Cys345Arg)single nucleotide variantPathogenicrs794726782GRCh37Chr 2, 166904274: 166904274
119NM_001165963.1(SCN1A): c.5334delG (p.Asn1779Thrfs)deletionPathogenicrs794726783GRCh37Chr 2, 166848451: 166848451
120NM_001165963.1(SCN1A): c.4223G> A (p.Trp1408Ter)single nucleotide variantPathogenicrs794726784GRCh37Chr 2, 166859043: 166859043
121NM_001165963.1(SCN1A): c.4823delA (p.Asp1608Valfs)deletionPathogenicrs794726785GRCh37Chr 2, 166850685: 166850685
122SCN1ANM_001165963.1(SCN1A): c.2615C> A (p.Ser872Tyr)single nucleotide variantPathogenicrs794726786GRCh37Chr 2, 166894617: 166894617
123SCN1ANM_001165963.1(SCN1A): c.2603delA (p.Lys868Serfs)deletionPathogenicrs794726787GRCh37Chr 2, 166894629: 166894629
124SCN1ANM_001165963.1(SCN1A): c.896_905delATTATAATGG (p.Asn299Ilefs)deletionPathogenicrs794726788GRCh37Chr 2, 166908288: 166908297
125NM_001165963.1(SCN1A): c.4016C> T (p.Ala1339Val)single nucleotide variantPathogenicrs794726789GRCh38Chr 2, 166002740: 166002740
126SCN1ANM_001165963.1(SCN1A): c.1516C> T (p.Gln506Ter)single nucleotide variantPathogenicrs794726790GRCh37Chr 2, 166901699: 166901699
127SCN1ANM_001165963.1(SCN1A): c.185delC (p.Pro62Hisfs)deletionPathogenicrs794726791GRCh37Chr 2, 166929947: 166929947
128SCN1ANM_001165963.1(SCN1A): c.1096_1115del20 (p.Asp366Phefs)deletionPathogenicrs794726792GRCh37Chr 2, 166904192: 166904211
129SCN1ANM_001165963.1(SCN1A): c.323T> C (p.Leu108Pro)single nucleotide variantPathogenicrs794726793GRCh37Chr 2, 166915140: 166915140
130SCN1ANM_001165963.1(SCN1A): c.2537A> G (p.Glu846Gly)single nucleotide variantPathogenicrs794726794GRCh37Chr 2, 166895985: 166895985
131SCN1ANM_001165963.1(SCN1A): c.2176+3T> Asingle nucleotide variantPathogenicrs794726795GRCh37Chr 2, 166898799: 166898799
132SCN1ANM_001165963.1(SCN1A): c.289_292delAAGG (p.Lys97Profs)deletionPathogenicrs794726796GRCh38Chr 2, 166058661: 166058664
133SCN1ANM_001165963.1(SCN1A): c.1025C> T (p.Ala342Val)single nucleotide variantPathogenicrs794726797GRCh37Chr 2, 166905399: 166905399
134SCN1ANM_001165963.1(SCN1A): c.2792G> C (p.Arg931Pro)single nucleotide variantLikely pathogenic, Pathogenicrs794726718GRCh37Chr 2, 166894440: 166894440
135SCN1ANM_001165963.1(SCN1A): c.1007G> A (p.Cys336Tyr)single nucleotide variantPathogenicrs794726798GRCh37Chr 2, 166905417: 166905417
136SCN1ANM_001165963.1(SCN1A): c.1129C> T (p.Arg377Ter)single nucleotide variantPathogenicrs794726799GRCh37Chr 2, 166904178: 166904178
137NM_001165963.1(SCN1A): c.4811G> A (p.Trp1604Ter)single nucleotide variantPathogenicrs794726800GRCh38Chr 2, 165994187: 165994187
138NM_001165963.1(SCN1A): c.5515C> G (p.Leu1839Val)single nucleotide variantPathogenicrs794726801GRCh38Chr 2, 165991760: 165991760
139NM_001165963.1(SCN1A): c.5108A> T (p.Asp1703Val)single nucleotide variantPathogenicrs794726802GRCh37Chr 2, 166848677: 166848677
140SCN1ANM_001165963.1(SCN1A): c.383+1A> Gsingle nucleotide variantPathogenicrs794726803GRCh37Chr 2, 166915079: 166915079
141NM_001165963.1(SCN1A): c.3899C> G (p.Thr1300Arg)single nucleotide variantPathogenicrs146878122GRCh38Chr 2, 166009822: 166009822
142SCN1ANM_001165963.1(SCN1A): c.2213G> A (p.Trp738Ter)single nucleotide variantPathogenicrs794726742GRCh38Chr 2, 166041433: 166041433
143NM_001165963.1(SCN1A): c.5106T> A (p.Asp1702Glu)single nucleotide variantPathogenicrs794726804GRCh37Chr 2, 166848679: 166848679
144SCN1ANM_001165963.1(SCN1A): c.2479T> G (p.Tyr827Asp)single nucleotide variantPathogenicrs794726805GRCh37Chr 2, 166896043: 166896043
145SCN1ANM_001165963.1(SCN1A): c.2100delC (p.Met701Trpfs)deletionPathogenicrs794726806GRCh37Chr 2, 166898878: 166898878
146SCN1ANM_001165963.1(SCN1A): c.1345G> T (p.Glu449Ter)single nucleotide variantPathogenicrs794726807GRCh37Chr 2, 166903312: 166903312
147SCN1ANM_001165963.1(SCN1A): c.2869_2878delTGGGACTGTA (p.Asp958Argfs)deletionPathogenicrs794726808GRCh38Chr 2, 166037844: 166037853
148NM_001165963.1(SCN1A): c.3106C> T (p.Gln1036Ter)single nucleotide variantPathogenicrs542420576GRCh38Chr 2, 166036371: 166036371
149NM_001165963.1(SCN1A): c.4412C> T (p.Ser1471Phe)single nucleotide variantPathogenicrs794726809GRCh37Chr 2, 166854612: 166854612
150SCN1ANM_001165963.1(SCN1A): c.1301delT (p.Leu434Trpfs)deletionPathogenicrs794726810GRCh37Chr 2, 166903356: 166903356
151SCN1ANM_001165963.1(SCN1A): c.2780G> T (p.Cys927Phe)single nucleotide variantPathogenicrs794726811GRCh37Chr 2, 166894452: 166894452
152SCN1ANM_001165963.1(SCN1A): c.825_826insGTATA (p.Lys276Valfs)insertionPathogenicrs794726812GRCh37Chr 2, 166908367: 166908368
153SCN1ANM_001165963.1(SCN1A): c.3017delA (p.Asp1006Valfs)deletionPathogenicrs794726813GRCh37Chr 2, 166892970: 166892970
154SCN1ANM_001165963.1(SCN1A): c.384_964deldeletionPathogenic
155SCN1ANM_001165963.1(SCN1A): c.747T> G (p.Asp249Glu)single nucleotide variantPathogenicrs773407463GRCh37Chr 2, 166908446: 166908446
156NM_001165963.1(SCN1A): c.5284_5291dupGGAATTTT (p.Phe1764Leufs)duplicationPathogenicrs794726814GRCh37Chr 2, 166848494: 166848501
157SCN1ANM_001165963.1(SCN1A): c.2678T> A (p.Leu893Ter)single nucleotide variantPathogenicrs794726815GRCh37Chr 2, 166894554: 166894554
158NM_001165963.1(SCN1A): c.3880-2A> Gsingle nucleotide variantPathogenicrs794726816GRCh38Chr 2, 166009843: 166009843
159NM_001165963.1(SCN1A): c.3757G> T (p.Glu1253Ter)single nucleotide variantPathogenicrs794726817GRCh38Chr 2, 166012231: 166012231
160SCN1ANM_001165963.1(SCN1A): c.1197_1198delCA (p.Met400Aspfs)deletionPathogenicrs794726818GRCh37Chr 2, 166903459: 166903460
161NM_001165963.1(SCN1A): c.4993_4996dupATGT (p.Ser1666Tyrfs)duplicationPathogenicrs794726819GRCh37Chr 2, 166848789: 166848792
162SCN1ANM_001165963.1(SCN1A): c.2318_2319insT (p.Ile774Hisfs)insertionPathogenicrs794726820GRCh37Chr 2, 166897837: 166897838
163NM_001165963.1(SCN1A): c.4055T> C (p.Leu1352Pro)single nucleotide variantPathogenicrs794726821GRCh37Chr 2, 166859211: 166859211
164NM_001165963.1(SCN1A): c.4044G> A (p.Met1348Ile)single nucleotide variantPathogenicrs794726822GRCh37Chr 2, 166859222: 166859222
165SCN1ANM_001165963.1(SCN1A): c.2903G> T (p.Cys968Phe)single nucleotide variantPathogenicrs794726823GRCh37Chr 2, 166894329: 166894329
166SCN1ANM_001165963.1(SCN1A): c.965-1G> Asingle nucleotide variantPathogenicrs794726824GRCh37Chr 2, 166905460: 166905460
167NM_001165963.1(SCN1A): c.4554delA (p.Lys1518Asnfs)deletionPathogenicrs794726825GRCh37Chr 2, 166852550: 166852550
168SCN1ANM_001165963.1(SCN1A): c.4285_4476deldeletionPathogenic
169SCN1ANM_001165963.1(SCN1A): c.1259C> T (p.Ala420Val)single nucleotide variantPathogenicrs794726826GRCh37Chr 2, 166903398: 166903398
170SCN1ANM_001165963.1(SCN1A): c.602+1G> Tsingle nucleotide variantPathogenicrs794726827GRCh37Chr 2, 166911147: 166911147
171NM_001165963.1(SCN1A): c.4766T> G (p.Val1589Gly)single nucleotide variantPathogenicrs764037830GRCh37Chr 2, 166850742: 166850742
172SCN1ANM_001165963.1(SCN1A): c.2929G> A (p.Val977Met)single nucleotide variantPathogenicrs794726828GRCh37Chr 2, 166894303: 166894303
173SCN1ANM_001165963.1(SCN1A): c.1439_1442delCAGA (p.Asp481Alafs)deletionPathogenicrs794726829GRCh37Chr 2, 166901773: 166901776
174SCN1ANM_001165963.1(SCN1A): c.2980_2981delTC (p.Ser994Ilefs)deletionPathogenicrs794726830GRCh37Chr 2, 166893006: 166893007
175SCN1ANM_001165963.1(SCN1A): c.380A> T (p.His127Leu)single nucleotide variantPathogenicrs794726831GRCh37Chr 2, 166915083: 166915083
176NM_001165963.1(SCN1A): c.5297_5298delTT (p.Phe1766Cysfs)deletionPathogenicrs794726832GRCh37Chr 2, 166848487: 166848488
177SCN1ANM_001165963.1(SCN1A): c.602+3A> Csingle nucleotide variantPathogenicrs794726833GRCh37Chr 2, 166911145: 166911145
178NM_001165963.1(SCN1A): c.4934G> C (p.Arg1645Pro)single nucleotide variantPathogenicrs121917976GRCh38Chr 2, 165992341: 165992341
179SCN1ANM_001165963.1(SCN1A): c.1804G> T (p.Glu602Ter)single nucleotide variantPathogenicrs794726834GRCh37Chr 2, 166900418: 166900418
180NM_001165963.1(SCN1A): c.4549A> T (p.Lys1517Ter)single nucleotide variantPathogenicrs794726835GRCh38Chr 2, 165996045: 165996045
181NM_001165963.1(SCN1A): c.3550+1G> Asingle nucleotide variantPathogenicrs794726836GRCh37Chr 2, 166872116: 166872116
182SCN1ANM_001165963.1(SCN1A): c.964+14T> Gsingle nucleotide variantPathogenicrs794726837GRCh37Chr 2, 166908215: 166908215
183SCN1ANM_001165963.1(SCN1A): c.1970C> T (p.Pro657Leu)single nucleotide variantPathogenicrs794726838GRCh37Chr 2, 166900252: 166900252
184NM_001165963.1(SCN1A): c.4985C> T (p.Ala1662Val)single nucleotide variantPathogenicrs794726839GRCh37Chr 2, 166848800: 166848800
185SCN1ANM_001165963.1(SCN1A): c.473+1G> Csingle nucleotide variantPathogenicrs794726840GRCh37Chr 2, 166912920: 166912920
186NM_001165963.1(SCN1A): c.3818C> T (p.Ala1273Val)single nucleotide variantPathogenicrs794726841GRCh38Chr 2, 166012170: 166012170
187NM_001165963.1(SCN1A): c.4168G> C (p.Val1390Leu)single nucleotide variantPathogenicrs121917986GRCh37Chr 2, 166859098: 166859098
188SCN1ANM_001165963.1(SCN1A): c.4338_6030deldeletionPathogenic
189SCN1ANM_001165963.1(SCN1A): c.2936G> A (p.Gly979Glu)single nucleotide variantPathogenicrs794726842GRCh37Chr 2, 166894296: 166894296
190SCN1ANM_001165963.1(SCN1A): c.1024G> T (p.Ala342Ser)single nucleotide variantPathogenicrs794726843GRCh37Chr 2, 166905400: 166905400
191SCN1ANM_001165963.1(SCN1A): c.1046A> G (p.Tyr349Cys)single nucleotide variantPathogenicrs794726844GRCh37Chr 2, 166904261: 166904261
192NM_001165963.1(SCN1A): c.5662C> T (p.Gln1888Ter)single nucleotide variantPathogenicrs794726845GRCh37Chr 2, 166848123: 166848123
193SCN1ANM_001165963.1(SCN1A): c.930_931dupTG (p.Glu311Valfs)duplicationPathogenicrs794726846GRCh37Chr 2, 166908262: 166908263
194SCN1ANM_001165963.1(SCN1A): c.826A> C (p.Lys276Gln)single nucleotide variantPathogenicrs794726847GRCh37Chr 2, 166908367: 166908367
195SCN1ANM_001165963.1(SCN1A): c.1663_2176deldeletionPathogenic
196SCN1ANM_001165963.1(SCN1A): c.70G> A (p.Ala24Thr)single nucleotide variantPathogenicrs794726848GRCh37Chr 2, 166930062: 166930062
197SCN1ANM_001165963.1(SCN1A): c.433A> G (p.Met145Val)single nucleotide variantPathogenicrs794726849GRCh37Chr 2, 166912961: 166912961
198NM_001165963.1(SCN1A): c.4829_4830dupTG (p.Val1611Trpfs)duplicationPathogenicrs794726850GRCh37Chr 2, 166850678: 166850679
199NM_001165963.1(SCN1A): c.5063G> T (p.Gly1688Val)single nucleotide variantPathogenicrs794726851GRCh38Chr 2, 165992212: 165992212
200SCN1ANM_001165963.1(SCN1A): c.384_1662dupduplicationPathogenic
201NM_001165963.1(SCN1A): c.3821A> C (p.Tyr1274Ser)single nucleotide variantPathogenicrs794726852GRCh37Chr 2, 166868677: 166868677
202NM_001165963.1(SCN1A): c.3858G> A (p.Trp1286Ter)single nucleotide variantPathogenicrs794726853GRCh37Chr 2, 166868640: 166868640
203SCN1ANM_001165963.1(SCN1A): c.384_473del90 (p.Leu129_Glu158del)deletionPathogenicGRCh37Chr 2, 166912921: 166913010
204NM_001165963.1(SCN1A): c.3661G> C (p.Glu1221Gln)single nucleotide variantPathogenicrs794726854GRCh37Chr 2, 166870298: 166870298
205NM_006920.4(SCN1A): c.4191G> A (p.Trp1397Ter)single nucleotide variantPathogenicrs794727337GRCh37Chr 2, 166859042: 166859042
206SCN1ANM_001165963.1(SCN1A): c.602+1G> Asingle nucleotide variantPathogenicrs794726827GRCh37Chr 2, 166911147: 166911147
207NM_001165963.1(SCN1A): c.3985C> T (p.Arg1329Ter)single nucleotide variantPathogenicrs796053004GRCh37Chr 2, 166866246: 166866246
208NM_001165963.1(SCN1A): c.4476+1A> Gsingle nucleotide variantPathogenicrs796053014GRCh37Chr 2, 166854547: 166854547
209SCN1ANM_001165963.1(SCN1A): c.1028+1G> Tsingle nucleotide variantPathogenicrs863225030GRCh38Chr 2, 166048885: 166048885
210SCN1ANM_001165963.1(SCN1A): c.249C> A (p.Tyr83Ter)single nucleotide variantPathogenicrs863225031GRCh37Chr 2, 166929883: 166929883
211SCN1ANM_001165963.1(SCN1A): c.264+5G> Asingle nucleotide variantPathogenicrs794726762GRCh37Chr 2, 166929863: 166929863
212NM_001165963.1(SCN1A): c.3306C> A (p.Tyr1102Ter)single nucleotide variantPathogenicrs863225032GRCh37Chr 2, 166892681: 166892681
213NM_001165963.1(SCN1A): c.3657G> A (p.Trp1219Ter)single nucleotide variantPathogenicrs863225033GRCh37Chr 2, 166870302: 166870302
214NM_001165963.1(SCN1A): c.3852delG (p.Trp1284Cysfs)deletionPathogenicrs863225034GRCh37Chr 2, 166868646: 166868646
215NM_001165963.1(SCN1A): c.4266T> A (p.Tyr1422Ter)single nucleotide variantPathogenicrs863225035GRCh37Chr 2, 166859000: 166859000
216NM_001165963.1(SCN1A): c.4477-2A> Gsingle nucleotide variantPathogenicrs863225036GRCh37Chr 2, 166852629: 166852629
217NM_001165963.1(SCN1A): c.5436G> A (p.Trp1812Ter)single nucleotide variantPathogenicrs863225037GRCh37Chr 2, 166848349: 166848349
218SCN1ANM_001165963.1(SCN1A): c.992dupT (p.Leu331Phefs)duplicationPathogenicrs863225038GRCh37Chr 2, 166905432: 166905432
219NM_006920.4(SCN1A): c.3671delT (p.Leu1224Argfs)deletionPathogenicrs869312670GRCh37Chr 2, 166870254: 166870255
220NM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu)single nucleotide variantPathogenicrs397514458GRCh37Chr 2, 166848779: 166848779
221SCN1ANM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly)single nucleotide variantPathogenicrs397514459GRCh37Chr 2, 166895938: 166895938
222SCN1ANM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121917957GRCh37Chr 2, 166904177: 166904177
223SCN1ANM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys)single nucleotide variantPathogenicrs121917929GRCh37Chr 2, 166903480: 166903480
224SCN1ANM_006920.4(SCN1A): c.1178G> A (p.Arg393His)single nucleotide variantPathogenicrs121917927GRCh37Chr 2, 166903479: 166903479
225SCN1ANM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly)single nucleotide variantPathogenicrs121917990GRCh37Chr 2, 166900346: 166900346
226SCN1ANM_006920.4(SCN1A): c.2804G> A (p.Arg935His)single nucleotide variantPathogenicrs121917971GRCh37Chr 2, 166894395: 166894395
227SCN1ANM_006920.4(SCN1A): c.301C> T (p.Arg101Trp)single nucleotide variantPathogenicrs121917965GRCh37Chr 2, 166915162: 166915162
228SCN1ANM_006920.4(SCN1A): c.302G> A (p.Arg101Gln)single nucleotide variantPathogenicrs121917918GRCh37Chr 2, 166915161: 166915161
229NM_006920.4(SCN1A): c.3701G> A (p.Arg1234Gln)single nucleotide variantPathogenicrs121917912GRCh37Chr 2, 166868764: 166868764
230NM_006920.4(SCN1A): c.3970G> A (p.Val1324Met)single nucleotide variantPathogenicrs121917960GRCh37Chr 2, 166859263: 166859263
231NM_006920.4(SCN1A): c.4135G> A (p.Val1379Met)single nucleotide variantPathogenicrs121917986GRCh37Chr 2, 166859098: 166859098
232NM_006920.4(SCN1A): c.4352A> G (p.Tyr1451Cys)single nucleotide variantPathogenicrs121917962GRCh37Chr 2, 166854639: 166854639
233NM_006920.4(SCN1A): c.4729T> C (p.Cys1577Arg)single nucleotide variantPathogenicrs121917919GRCh37Chr 2, 166850746: 166850746
234NM_006920.4(SCN1A): c.4789G> T (p.Asp1597Tyr)single nucleotide variantPathogenicrs121917915GRCh37Chr 2, 166850686: 166850686
235NM_006920.4(SCN1A): c.4855G> A (p.Val1619Met)single nucleotide variantLikely pathogenicrs121917914GRCh37Chr 2, 166848897: 166848897
236NM_006920.4(SCN1A): c.4901G> A (p.Arg1634Gln)single nucleotide variantPathogenicrs121917976GRCh37Chr 2, 166848851: 166848851
237NM_006920.4(SCN1A): c.5113T> C (p.Cys1705Arg)single nucleotide variantPathogenicrs121917926GRCh37Chr 2, 166848639: 166848639
238NM_006920.4(SCN1A): c.5314G> A (p.Ala1772Thr)single nucleotide variantPathogenicrs121917980GRCh37Chr 2, 166848438: 166848438
239NM_006920.4(SCN1A): c.5315C> T (p.Ala1772Val)single nucleotide variantPathogenicrs121917921GRCh37Chr 2, 166848437: 166848437
240NM_006920.4(SCN1A): c.5732T> C (p.Ile1911Thr)single nucleotide variantLikely pathogenicrs121917981GRCh37Chr 2, 166848020: 166848020
241SCN1ANM_006920.4(SCN1A): c.677C> T (p.Thr226Met)single nucleotide variantPathogenicrs121917984GRCh37Chr 2, 166909379: 166909379
242SCN1ANM_006920.4(SCN1A): c.680T> G (p.Ile227Ser)single nucleotide variantPathogenicrs121917937GRCh37Chr 2, 166909376: 166909376
243SCN1ANM_006920.4(SCN1A): c.715G> A (p.Ala239Thr)single nucleotide variantPathogenicrs121917985GRCh37Chr 2, 166908478: 166908478
244SCN1ANM_006920.4(SCN1A): c.838T> C (p.Trp280Arg)single nucleotide variantPathogenicrs121917938GRCh37Chr 2, 166908355: 166908355
245SCN1ANM_006920.4(SCN1A): c.1216G> T (p.Val406Phe)single nucleotide variantPathogenicrs121918768GRCh37Chr 2, 166903441: 166903441
246SCN1ANM_006920.4(SCN1A): c.2552G> A (p.Arg851Gln)single nucleotide variantPathogenicrs121918785GRCh37Chr 2, 166895937: 166895937
247SCN1ANM_006920.4(SCN1A): c.269T> C (p.Phe90Ser)single nucleotide variantPathogenicrs121918733GRCh37Chr 2, 166915194: 166915194
248SCN1ANM_006920.4(SCN1A): c.272T> C (p.Ile91Thr)single nucleotide variantPathogenicrs121918734GRCh37Chr 2, 166915191: 166915191
249SCN1ANM_006920.4(SCN1A): c.2758C> T (p.Arg920Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121918788GRCh37Chr 2, 166894441: 166894441
250SCN1ANM_006920.4(SCN1A): c.2782C> T (p.His928Tyr)single nucleotide variantPathogenicrs121918736GRCh37Chr 2, 166894417: 166894417
251SCN1ANM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys)single nucleotide variantPathogenicrs121918775GRCh37Chr 2, 166894396: 166894396
252SCN1ANM_006920.4(SCN1A): c.2821T> G (p.Trp941Gly)single nucleotide variantPathogenicrs121918737GRCh37Chr 2, 166894378: 166894378
253NM_006920.4(SCN1A): c.3596C> A (p.Thr1199Lys)single nucleotide variantPathogenicrs121918738GRCh37Chr 2, 166870330: 166870330
254NM_006920.4(SCN1A): c.3745A> C (p.Thr1249Pro)single nucleotide variantPathogenicrs121918739GRCh37Chr 2, 166868720: 166868720
255NM_006920.4(SCN1A): c.3827T> C (p.Leu1276Pro)single nucleotide variantPathogenicrs121918740GRCh37Chr 2, 166868638: 166868638
256NM_006920.4(SCN1A): c.4265G> A (p.Gly1422Glu)single nucleotide variantPathogenicrs121918741GRCh37Chr 2, 166856273: 166856273
257NM_006920.4(SCN1A): c.4724G> A (p.Gly1575Glu)single nucleotide variantPathogenicrs121918742GRCh37Chr 2, 166850751: 166850751
258NM_006920.4(SCN1A): c.4909C> T (p.Arg1637Cys)single nucleotide variantPathogenicrs121918791GRCh37Chr 2, 166848843: 166848843
259NM_006920.4(SCN1A): c.4940C> T (p.Thr1647Met)single nucleotide variantPathogenicrs121917922GRCh37Chr 2, 166848812: 166848812
260NM_006920.4(SCN1A): c.5313C> G (p.Ile1771Met)single nucleotide variantPathogenicrs121918763GRCh37Chr 2, 166848439: 166848439
261NM_006920.4(SCN1A): c.5401T> G (p.Trp1801Gly)single nucleotide variantLikely pathogenicrs121918751GRCh37Chr 2, 166848351: 166848351
262NM_006920.4(SCN1A): c.5522T> C (p.Met1841Thr)single nucleotide variantPathogenicrs121918783GRCh37Chr 2, 166848230: 166848230
263SCN1ANM_006920.4(SCN1A): c.568T> C (p.Trp190Arg)single nucleotide variantPathogenicrs121918773GRCh37Chr 2, 166911182: 166911182
264SCN1ANM_006920.4(SCN1A): c.777C> A (p.Ser259Arg)single nucleotide variantPathogenicrs121918735GRCh37Chr 2, 166908416: 166908416
265SCN1ANM_006920.4(SCN1A): c.1029-1G> Csingle nucleotide variantPathogenicrs398123579GRCh37Chr 2, 166904279: 166904279
266SCN1ANM_006920.4(SCN1A): c.1162delT (p.Tyr388Ilefs)deletionPathogenicrs398123580GRCh37Chr 2, 166904145: 166904145
267SCN1ANM_006920.4(SCN1A): c.1766A> T (p.Asp589Val)single nucleotide variantLikely pathogenicrs398123584GRCh37Chr 2, 166900456: 166900456
268SCN1ANM_001165963.1(SCN1A): c.1837C> T (p.Arg613Ter)single nucleotide variantPathogenicrs398123585GRCh37Chr 2, 166900385: 166900385
269SCN1ANM_006920.4(SCN1A): c.2543G> A (p.Arg848His)single nucleotide variantPathogenicrs398123588GRCh37Chr 2, 166895946: 166895946
270NM_006920.4(SCN1A): c.3613G> A (p.Glu1205Lys)single nucleotide variantLikely pathogenicrs398123590GRCh37Chr 2, 166870313: 166870313
271NM_006920.4(SCN1A): c.4186C> T (p.Arg1396Ter)single nucleotide variantPathogenicrs398123593GRCh37Chr 2, 166859047: 166859047
272NM_006920.4(SCN1A): c.4251+2T> Csingle nucleotide variantPathogenicrs398123595GRCh37Chr 2, 166858980: 166858980
273NM_006920.4(SCN1A): c.5108T> C (p.Met1703Thr)single nucleotide variantLikely pathogenicrs121917949GRCh37Chr 2, 166848644: 166848644
274NM_006920.4(SCN1A): c.5506delC (p.Leu1836Serfs)deletionPathogenicrs398123599GRCh37Chr 2, 166848246: 166848246

Expression for genes affiliated with Dravet Syndrome

About this section
Search GEO for disease gene expression data for Dravet Syndrome.

Pathways for genes affiliated with Dravet Syndrome

About this section

Pathways related to Dravet Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.2GABRA1, GABRG2
2
Show member pathways
10.2GABRA1, GABRG2
3
Show member pathways
9.9GABRA1, SCN2A, SCN3A, SCN9A
4
Show member pathways
9.7SCN1A, SCN1B, SCN2A, SCN3A, SCN9A
5
Show member pathways
9.7SCN1A, SCN1B, SCN2A, SCN3A, SCN9A
6
Show member pathways
9.7SCN1A, SCN1B, SCN2A, SCN3A, SCN9A
79.7SCN1A, SCN1B, SCN2A, SCN3A, SCN9A
8
Show member pathways
9.7SCN1A, SCN1B, SCN2A, SCN3A, SCN9A
9
Show member pathways
9.5SCN1A, SCN1B, SCN2A, SCN3A, SCN9A, SLC8A1

GO Terms for genes affiliated with Dravet Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:003470610.5SCN1A, SCN2A
2voltage-gated sodium channel complexGO:000151810.5SCN1B, SCN2A
3intercalated discGO:00147049.8SCN1A, SCN1B, SCN2A, SLC8A1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:005193210.8GABRA1, GABRG2
2neuronal action potential propagationGO:001922710.7SCN1A, SCN1B
3regulation of postsynaptic membrane potentialGO:006007810.7SCN1A, SCN9A
4membrane depolarization during cardiac muscle cell action potentialGO:008601210.6SCN1B, SLC8A1
5neuronal action potentialGO:001922810.5SCN1A, SCN2A, SCN9A
6membrane depolarization during action potentialGO:008601010.4SCN1A, SCN9A
7regulation of sodium ion transportGO:000202810.3SCN1B, SLC8A1
8ion transmembrane transportGO:00342209.9ATP6V0C, SCN2A, SCN3A
9ion transportGO:00068119.9GABRA1, SCN1A, SLC8A1
10transmembrane transportGO:00550859.4ATP6V0C, GABRA1, GABRG2, SCN1A, SCN2A, SCN3A

Sources for Dravet Syndrome

About this section
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