MCID: DRV001
MIFTS: 68

Dravet Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases

Aliases & Classifications for Dravet Syndrome

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Aliases & Descriptions for Dravet Syndrome:

Name: Dravet Syndrome 52 11 48 49 54 70 12 50 13 35
Severe Myoclonic Epilepsy of Infancy 48 49 54 27
Smei 11 48 54 70
Severe Myoclonic Epilepsy in Infancy 11 70
Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures 68
Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 70
Epileptic Encephalopathy, Early Infantile, 6 70
Myoclonic Epilepsy, Severe, of Infancy 48
Smei-Borderland More Than One Feature 70
Severe Myoclonus Epilepsy of Infancy 54
Infantile Severe Myoclonic Epilepsy 68
Smei-Borderland-Myoclonic Seizures 70
 
Dravet Syndrome, Modifier of 52
Smei-Borderland-Spike Wave 70
Borderline Smei 70
Smei-Borderland 70
Smeb-Sw 70
Icegtc 70
Smeb-M 70
Smeb-O 70
Eiee6 70
Smeb 70
Sme 48
Ds 54

Characteristics:

Orphanet epidemiological data:

54
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:

64
dravet syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 607208
Disease Ontology11 DOID:0060171
Orphanet54 ORPHA33069
ICD10 via Orphanet31 G40.4
MeSH39 D004831

Summaries for Dravet Syndrome

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OMIM:52 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 gabrg2-related dravet syndrome and scn9a-related dravet syndrome, and has symptoms including Array, Array and Array. An important gene associated with Dravet Syndrome is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways are Benzodiazepine Pathway, Pharmacodynamics and Synaptic Neurotransmission Pathways: GABAergic Inhibition. Affiliated tissues include brain, testes and heart, and related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:11 An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.

NIH Rare Diseases:48 Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as SCN1A-related seizure disorders. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. Around 85% of Dravet syndrome cases are due to a mutation in the SCN1A gene, which is required for the proper function of brain cells. In about 10% of cases the cause is unknown but other genes are likely the cause. The main goal of treatment is to reduce seizures frequency and prevent status epilepticus. Moderate to severe cognitive impairment and intractable epilepsy into adulthood is common.  Last updated: 12/29/2016

NINDS:49 Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy.

UniProtKB/Swiss-Prot:70 Epileptic encephalopathy, early infantile, 6: A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. Intractable childhood epilepsy with generalized tonic-clonic seizures: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures.

Wikipedia:71 Dravet syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a type of epilepsy with... more...

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 all 46)
idRelated DiseaseScoreTop Affiliating Genes
1gabrg2-related dravet syndrome11.8
2scn9a-related dravet syndrome11.8
3epilepsy, generalized, with febrile seizures plus, type 210.8
4epileptic encephalopathy, early infantile, 110.8
5scn1a-related intractable childhood epilepsy with generalized tonic-clonic seizures10.8
6scn1a-related severe myoclonic epilepsy in infancy10.8
7scn9a-related inherited erythromelalgia10.6SCN1A, SCN1B, SCN9A
8atrial fibrillation, familial, 1310.6SCN1A, SCN1B
9epilepsy, juvenile absence 110.6GABRA1, GABRG2, SCN1A
10idiopathic hemiconvulsion-hemiplegia syndrome10.6GABRG2, SCN1A
11chromosome 8-derived supernumerary ring /marker10.5CACNA1A, SCN1A
12congenital nervous system abnormality10.5PCDH19, SCN1A, STXBP1
13epilepsy10.5
14generalized gangliosidoses10.5GABRG2, SCN1A, SCN1B, SCN9A
15surfactant dysfunction10.5CACNA1A, SCN1A
16aceruloplasminemia10.4PCDH19, SCN1A, SCN2A, STXBP1
17adenosine triphosphatase deficiency, anemia due to10.4SCN3A, SCN9A
18erb-duchenne and dejerine-klumpke palsies10.4PCDH19, SCN1A, SCN2A, STXBP1
19mononeuritis multiplex10.4GABRA1, GABRG2, SCN1A, SCN1B, SCN2A
20childhood malignant hemangiopericytoma10.4SCN1A, SCN2A, TBC1D24
21early onset absence epilepsy10.3GABRA1, GABRG2, TBC1D24
22urethral obstruction sequence10.3SCN1A, TBC1D24
23encephalopathy10.3
24interstitial lung disease10.3SCN1A, STXBP1, TBC1D24
25childhood electroclinical syndrome10.2SCN1A, SCN2A, STXBP1, TBC1D24
26granulomatous hepatitis10.2GABRG2, SCN1A, SCN3A, TBC1D24
27autosomal dominant nonsyndromic deafness10.2CHD2, GABRA1, SCN1A, TBC1D24
28neuronitis10.1
29myoclonic epilepsy of infancy10.1
30blount's disease10.1SCN2A, TBC1D24
31corneal dystrophy, schnyder type10.1CLSTN1, SLC8A1
32peyronie's disease10.1SCN2A, STXBP1, TBC1D24
33status epilepticus10.1
34febrile seizures10.1
35epilepsy, generalized, with febrile seizures plus, type 510.0GABRA1, GABRG2, SCN1A, SCN1B, SCN2A, TBC1D24
36urethral stricture9.9GABRA1, GABRG2, PCDH19, SCN1A, SCN1B, SCN9A
37adolescence-adult electroclinical syndrome9.9GABRG2, PCDH19, SCN1A, SCN1B, SCN2A, STXBP1
38hepatitis9.9
39gaba aminotransferase deficiency9.7GABRA1, GABRG2, SCN1A, SCN1B, SCN2A, SCN3A
40generalized epilepsy with febrile seizures plus9.7
41focal epilepsy9.7
42infantile epileptic encephalopathy9.7
43neuropathy9.7
44myoclonic astatic epilepsy9.7
45myoclonus9.7
46brachydactyly, type e7.5ATP6V0C, CACNA1A, CHD2, CLSTN1, CYP2C19, GABRA1

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



Diseases related to dravet syndrome

Symptoms & Phenotypes for Dravet Syndrome

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Symptoms by clinical synopsis from OMIM:

607208

Clinical features from OMIM:

607208

Human phenotypes related to Dravet Syndrome:

 54 64 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cutaneous photosensitivity54 Very frequent (99-80%)
2 seizures54 Very frequent (99-80%)
3 ataxia64 54 Very frequent (99-80%) HP:0001251
4 global developmental delay64 54 Very frequent (99-80%) HP:0001263
5 absence seizures64 54 Very frequent (99-80%) HP:0002121
6 generalized myoclonic seizures64 54 Very frequent (99-80%) HP:0002123
7 generalized seizures54 Very frequent (99-80%)
8 focal clonic seizures54 Very frequent (99-80%)
9 eeg abnormality54 Very frequent (99-80%)
10 neurodevelopmental delay54 Very frequent (99-80%)
11 febrile seizures54 Frequent (79-30%)
12 focal seizures with impairment of consciousness or awareness64 54 Occasional (29-5%) HP:0002384
13 mental deterioration64 HP:0001268
14 motor delay64 HP:0001270
15 cerebral atrophy64 HP:0002059
16 status epilepticus64 HP:0002133
17 postnatal microcephaly64 HP:0005484
18 hemiclonic seizures64 HP:0006813
19 cortical visual impairment64 HP:0100704
20 epileptic encephalopathy64 HP:0200134

UMLS symptoms related to Dravet Syndrome:


ataxia, seizures, hyperexplexia, epileptic aura, seizures, tonic, myoclonus, eyelid, seizures, focal, convulsion in childhood

MGI Mouse Phenotypes related to Dravet Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.1CACNA1A, CLSTN1, GABRA1, GABRG2, KDM2B, KIF1B
2MP:00053869.1CACNA1A, CHD2, CLSTN1, GABRA1, GABRG2, KIF1B
3MP:00030129.1CACNA1A, CLSTN1, GABRA1, KDM2B, SCN1B, SCN3A
4MP:00107688.6ATP6V0C, CACNA1A, CHD2, GABRA1, GABRG2, KDM2B

Drugs & Therapeutics for Dravet Syndrome

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

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1StiripentolapprovedPhase 4, Phase 3849763-96-4
2AnticonvulsantsPhase 4, Phase 32620
3
EthanolapprovedPhase 3, Phase 2204364-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
4
Clobazamapproved, illicitPhase 32022316-47-82789
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
RU-4723
UNII-2MRO291B4U
Urbadan
Urbanil
Urbanyl
WLN: T67 GNV JVN IHJ CG G1 KR
ZINC00001175
clobazam
nchembio747-comp39
5Pharmaceutical SolutionsPhase 3, Phase 27793
6
SerotoninPhase 3356650-67-95202
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
7Serotonin Uptake InhibitorsPhase 31570
8Serotonin AgentsPhase 33102
9Neurotransmitter AgentsPhase 317734
10Neurotransmitter Uptake InhibitorsPhase 33464
11StrawberryNutraceuticalPhase 3, Phase 280
12
VerapamilapprovedPhase 212552-53-92520
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
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
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 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 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 23438
14calcium channel blockersPhase 21940
15Calcium, DietaryPhase 25525
16Anti-Arrhythmia AgentsPhase 22969
17
Dronabinolapproved, illicitPhase 11381972-08-316078, 2978
Synonyms:
(-)- delta 9-Tetrahydrocannabinol
(-)-.DELTA.1-Tetrahydrocannabinol
(-)-.DELTA.9-THC
(-)-.DELTA.9-Tetrahydrocannabinol
(-)-.DELTA.9-trans-Tetrahydrocannabinol
(-)-.delta.(sup9)-trans-Tetrahydrocannabinol
(-)-3,4-trans-Delta1-Tetrahydrocannabinol
(-)-delta (sup9)-trans-Tetrahydrocannabinol
(-)-delta 1-Tetrahydrocannabinol
(-)-delta 9-THC
(-)-delta 9-trans-Tetrahydrocannabinol
(-)-delta(sup 1)-3,4-trans-Tetrahydrocannabinol
(-)-delta1-Tetrahydrocannabinol
(-)-delta9-(trans)-Tetrahydrocannabinol
(-)-delta9-Tetrahydrocannabinol
(-)-delta9-trans-Tetrahydrocannabinol
(-)-trans-.DELTA.9-Tetrahydrocannabinol
(-)-trans-Delta1-Tetrahydrocannabinol
(-)-trans-Delta9-THC
(-)-trans-delta 1-Tetrahydrocannabinol
(-)-trans-delta 9-THC
(-)-trans-delta 9-Tetrahydrocannabinol
(-)-trans-delta9-Tetrahydrocannabinol
(L)-.delta.1-Tetrahydrocannabinol
(L)-delta 1-Tetrahydrocannabinol
(l)-delta(sup 1)-Tetrahydrocannabinol
(l)-delta1-Tetrahydrocannabinol
.DELTA.1-THC
.DELTA.1-Tetrahydrocannabinol
.DELTA.9-THC
.DELTA.9-trans-Tetrahydrocannabinol
.delta.(sup9)-THC
.delta.-9-THC
1-trans-.delta.(sup9)-tetrahydrocannabinol
1-trans-D9-Tetrahydrocannabinol
1-trans-delta (sup9)-tetrahydrocannabinol
1-trans-delta 9-Tetrahydrocannabinol
1-trans-delta(sup 9)-Tetrahydrocannabinol
1-trans-delta(sup9)-tetrahydrocannabinol
1-trans-delta-9-Tetrahydrocannabinol
1-trans-delta9-Tetrahydrocannabinol
1363-19-5
14146-29-3
14146-43-1
14C-.DELTA.1-Tetrahydrocannabinol
14C-delta 1-Tetrahydrocannabinol
1972-08-3
26108-45-2
3-Pentyl-6,6,9-trimethyl-6a,7,8,10a-tetrahydro-6H-dibenzo(b,D)pyran-1-ol
308064-99-5
5957-27-7
6,6,9-Trimethyl-3-pentyl-6a,7,8,10a-tetrahydro-6H-benzo[c]chromen-1-ol
6465-30-1
6H-Dibenzo
9-delta-Tetrahydrocannabinol
9-ene-Tetrahydrocannabinol
9-tetrahydrocannabinol
AC1L277U
AC1Q2VRZ
Abbott 40566
BIDD:GT0427
C06972
CAT-310
CCRIS 4726
CHEBI:104496
CHEMBL465
CID16078
Cannabinol, Delta1-tetrahydro- (7CI)
Cannabinol, tetrahydro- (6CI)
Cannabis resin
Compassia
D00306
DB00470
DEA No. 7369
DEA No. 7370
DRG-0138
Delta9-Tetrahydrocannabinol solution
Deltanyne
Drona binol
Dronabinol
Dronabinol (USP/INN)
Dronabinol [USAN:INN]
Dronabinolum
Dronabinolum [Latin]
 
EPA 28
EPA-PLUS
Exocyclic delta (9)(11)-Tetrahydrocannabiol
Fats and Glyceridic oils, fish, n-3 fatty acid-high
Fish oils, n-3 fatty acid-high
Fish oils, omega-3 fatty acid-high
Ganja
HSDB 6471
Hashish
L-.delta.1-Tetrahydrocannabinol
L-.delta.1-trans-Tetrahydrocannabinol
L-delta 1-trans-Tetrahydrocannabinol
L-delta(sup 1)-tetrahydrocannabinol
L-delta1-trans-Tetrahydrocannabinol
L-trans-.delta.9-Tetrahydrocannabinol
L-trans-delta 9-Tetrahydrocannabinol
L-trans-delta9-Tetrahydrocannabinol
LS-975
Marincap
Marinol
Marinol (TN)
MaxEPA
MolPort-003-959-698
NSC 134454
NSC134454
Namisol
Omegaven
PDSP2_000714
Primolut
Pro-Mega
Promega
QCD 84924
QCD-84924
Relivar
SP 104
Sonergx
T2386_SIGMA
T4764_FLUKA
T4764_SIGMA
TETRAHYDROCANNABINOL
THC
THC-delta-9
Tetrahydrocannabinol
Tetrahydrocannabinol delta9
Tetrahydrocannabinols (-)-delta1-3,4-trans-form
Tetranabinex
UNII-7J8897W37S
ZINC01530625
delta (sup9)-Thc
delta 1-THC
delta 1-Tetrahydrocannabinol
delta 9-THC
delta 9-Tetrahydrocannabinol
delta 9-trans-Tetrahydrocannabinol
delta(1)-THC
delta(1)-Tetrahydrocannabinol
delta(9)-THC
delta(9)-Tetrahydrocannabinol
delta(9)-Tetrahydrocannibinol
delta(sup 1)-Tetrahydrocannabinol
delta(sup 1)-Thc
delta(sup 9)-Tetrahydrocannabinol
delta(sup 9)-Thc
delta-9-THC
delta-9-Tetrahydrocannabinol
delta-9-tetrahydrocannabinol
delta-THC
delta1-THC
delta1-Tetrahydrocannabinol
delta1-Tetrahydrocannabinol (VAN)
delta9-THC
delta9-Tetrahydrocannabinol
delta9-Tetrahydrocannabinol (VAN)
delta9-trans-Tetrahydrocannabinol
nchembio.129-comp1
nchembio.552-comp1
nchembio.86-comp3
omega-3-Fatty acid
trans-.DELTA.9-Tetrahydrocannabinol
trans-delta (-)-9-Tetrahydrocannabinol
trans-delta 9-Tetrahydrocannabinol
trans-delta-9-Tetrahydrocannabinol
trans-delta9-Tetrahydrocannabinol
trans-tetrahydrocannabinol
Δ9-tetrahydrocannabinol

Interventional clinical trials:

(show all 28)
idNameStatusNCT IDPhase
1Stiripentol in Dravet SyndromeNo longer availableNCT01533506Phase 4
2Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1)CompletedNCT02091375Phase 3
3A Two-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥2 Years Old and Young Adults With Dravet SyndromeRecruitingNCT02926898Phase 3
4A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) as an Adjunctive Therapy in Children and Young Adults With Dravet SyndromeRecruitingNCT02826863Phase 3
5GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet SyndromeRecruitingNCT02224703Phase 3
6A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet SyndromeRecruitingNCT02682927Phase 3
7Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure DisorderActive, not recruitingNCT02318602Phase 3
8An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet SyndromeEnrolling by invitationNCT02823145Phase 3
9An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet or Lennox-Gastaut SyndromesEnrolling by invitationNCT02224573Phase 3
10Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Subjects With Inadequately Controlled Dravet SyndromeNot yet recruitingNCT02318563Phase 3
11Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet SyndromeTerminatedNCT02187809Phase 3
12Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet SyndromeWithdrawnNCT02174094Phase 3
13Verapamil as Therapy for Children and Young Adults With Dravet SyndromeCompletedNCT01607073Phase 2
14A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1)CompletedNCT02091206Phase 2
15Ataluren for Nonsense Mutation in CDKL5 and Dravet SyndromeRecruitingNCT02758626Phase 2
16Cannabidiol (CBD) to 27 Patients (Aged 2 Years - 19 Years) With Drug Resistant EpilepsyActive, not recruitingNCT02286986Phase 1
17Cannabinoid Therapy for Pediatric EpilepsyNot yet recruitingNCT02983695Phase 1
18Cannabidiol in Children With Refractory Epileptic EncephalopathyNot yet recruitingNCT03024827Phase 1
19Neuronal Excitability of HCN1 Channel Mutations in Dravet SyndromeRecruitingNCT02896608
20Cardiac Arrhythmias in Dravet SyndromeRecruitingNCT02415686
21Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet PopulationRecruitingNCT02229032
22Genetics of Severe Early Onset EpilepsiesRecruitingNCT01858285
23Risk Factors for Sudden Unexplained Death in EpilepsyRecruitingNCT01662453
24Compassionate Use of Stiripentol in Dravet SyndromeAvailableNCT01835314
25Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet SyndromeAvailableNCT01983722
26Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic EncephalopathiesAvailableNCT02239276
27The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe EpilepsyNot yet recruitingNCT02910297
28The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe EpilepsyNot yet recruitingNCT02815540

Search NIH Clinical Center for Dravet Syndrome

Genetic Tests for Dravet Syndrome

About this section

Genetic tests related to Dravet Syndrome:

id Genetic test Affiliating Genes
1 Severe Myoclonic Epilepsy in Infancy27

Anatomical Context for Dravet Syndrome

About this section

MalaCards organs/tissues related to Dravet Syndrome:

36
Brain, Testes, Heart, Cortex, Skin

Publications for Dravet Syndrome

About this section

Articles related to Dravet Syndrome:

(show top 50)    (show all 275)
idTitleAuthorsYear
1
SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. (28079314)
2017
2
Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome. (28073790)
2017
3
Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients. (27790834)
2017
4
A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients. (27458797)
2016
5
Palliative epilepsy surgery in Dravet syndrome-case series and review of the literature. (27465677)
2016
6
Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome. (27367160)
2016
7
Serotonergic Modulation as Effective Treatment for Dravet Syndrome in a Zebrafish Mutant Model. (26822114)
2016
8
Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A. (27653866)
2016
9
PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. (27371789)
2016
10
Mortality in Dravet syndrome. (27810515)
2016
11
Outlining a core neuropsychological phenotype for Dravet syndrome. (26808204)
2016
12
Crouch Gait in Dravet Syndrome. (27909386)
2016
13
Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq. (27768696)
2016
14
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. (26841829)
2016
15
A case of Dravet syndrome with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data. (27523882)
2016
16
Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine. (27197941)
2016
17
Dravet syndrome: Not just epilepsy. (27316245)
2016
18
Treatment of Dravet Syndrome. (27264138)
2016
19
Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome. (27333023)
2016
20
Supraventricular Tachycardia During Status Epilepticus in Dravet Syndrome: A Link Between Brain and Heart? (26803335)
2016
21
Helping Families Cope with the Severe Stress of Dravet Syndrome. (27264140)
2016
22
Analysis of endocannabinoid signaling elements and related proteins in lymphocytes of patients with Dravet syndrome. (27069631)
2016
23
Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study. (27389706)
2016
24
Motor neuropathy contributes to crouching in patients with Dravet syndrome. (27316242)
2016
25
Cognitive-behavioral profiles in teenagers with Dravet syndrome. (26797655)
2016
26
Dravet syndrome with favourable cognitive and behavioral development due to a novel SCN1A frameshift mutation. (27209029)
2016
27
Expecting the Unexpected: Lack of In Vivo Network Defects in an Scn1a Model of Dravet Syndrome. (27857626)
2016
28
Audit of use of stiripentol in adults with Dravet syndrome. (27231140)
2016
29
Altered Glycolysis and Mitochondrial Respiration in a Zebrafish Model of Dravet Syndrome. (27066534)
2016
30
Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection. (27045673)
2016
31
Dravet Syndrome: Diagnosis and Long-Term Course. (27264139)
2016
32
Photosensitivity in Dravet syndrome is under-recognized and related to prognosis. (28042998)
2016
33
Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. (28012175)
2016
34
Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report. (27021235)
2016
35
Mortality in Dravet syndrome: A review. (27732919)
2016
36
In Reply: Supraventricular Tachycardia During Status Epilepticus in Dravet Syndrome: AA Link Between Brain and Heart? (27480955)
2016
37
Phenotypes of Dravet Syndrome. (27617639)
2016
38
Pharmacotherapy for Dravet Syndrome. (26966048)
2016
39
Prevalence and Characteristics of Vaccination Triggered Seizures in Dravet Syndrome in Hong Kong: A Retrospective Study. (26995069)
2016
40
Two mild cases of Dravet syndrome with truncating mutation of SCN1A. (27544716)
2016
41
Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome. (27246997)
2016
42
Disorders of early language development in Dravet syndrome. (26630186)
2016
43
Reflex Seizures Triggered by Diaper Change in Dravet Syndrome. (26889571)
2016
44
De novo SCN1A gene deletion in therapy-resistant Dravet syndrome]. (26614543)
2015
45
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. (25795284)
2015
46
Vaccinations and Dravet Syndrome. (26933542)
2015
47
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
48
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
49
Dravet syndrome in Sweden. (25731594)
2015
50
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

Variations for Dravet Syndrome

About this section

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

70 (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_073445rs758871507
161SCN1Ap.Asp79AsnVAR_073446
162SCN1Ap.Ala98ProVAR_073447
163SCN1Ap.Thr105IleVAR_073448rs796053089
164SCN1Ap.Leu108ArgVAR_073449
165SCN1Ap.His127AspVAR_073450rs148442069
166SCN1Ap.Ile171ArgVAR_073451
167SCN1Ap.Ala175ValVAR_073452
168SCN1Ap.Phe178SerVAR_073453
169SCN1Ap.Cys179ArgVAR_073454
170SCN1Ap.Asn191LysVAR_073455
171SCN1Ap.Asp194GlyVAR_073456
172SCN1Ap.Ala223GluVAR_073458
173SCN1Ap.Thr226ArgVAR_073459rs121917984
174SCN1Ap.Ile227ThrVAR_073460
175SCN1Ap.Gly232SerVAR_073461
176SCN1Ap.Leu233ArgVAR_073462
177SCN1Ap.Ser243TyrVAR_073463rs794726755
178SCN1Ap.Ile252MetVAR_073464
179SCN1Ap.Cys277ArgVAR_073466
180SCN1Ap.Trp280CysVAR_073467
181SCN1Ap.Pro281AlaVAR_073468
182SCN1Ap.Pro281LeuVAR_073469rs796052964
183SCN1Ap.Pro281SerVAR_073470
184SCN1Ap.His290ArgVAR_073471
185SCN1Ap.Ser340PheVAR_073474
186SCN1Ap.Ala342ValVAR_073475rs794726797
187SCN1Ap.Cys345ArgVAR_073476rs794726782
188SCN1Ap.Cys351TrpVAR_073477
189SCN1Ap.Gly355AspVAR_073478
190SCN1Ap.Asn357IleVAR_073479
191SCN1Ap.Asn359SerVAR_073480rs794726713
192SCN1Ap.Thr363ProVAR_073481
193SCN1Ap.Thr363ArgVAR_073482
194SCN1Ap.Leu378GlnVAR_073483
195SCN1Ap.Trp384ArgVAR_073485
196SCN1Ap.Met400ValVAR_073486
197SCN1Ap.Phe403ValVAR_073488
198SCN1Ap.Leu409TrpVAR_073489
199SCN1Ap.Tyr426CysVAR_073490rs796052973
200SCN1Ap.Ser525PheVAR_073491
201SCN1Ap.Asp674GlyVAR_073492
202SCN1Ap.Asn762AspVAR_073494
203SCN1Ap.Met785ThrVAR_073495rs796053095
204SCN1Ap.Thr812IleVAR_073497
205SCN1Ap.Leu842ArgVAR_073498
206SCN1Ap.Ser843ArgVAR_073499
207SCN1Ap.Arg865GlyVAR_073502
208SCN1Ap.Leu876IleVAR_073503
209SCN1Ap.Leu890ProVAR_073504
210SCN1Ap.Val896PheVAR_073505
211SCN1Ap.Val896IleVAR_073506rs745378416
212SCN1Ap.Val896LeuVAR_073507
213SCN1Ap.Cys927PheVAR_073510rs794726811
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_073538rs566081370
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_073557rs794726789
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_073584rs796053012
273SCN1Ap.Tyr1462HisVAR_073585
274SCN1Ap.Phe1472SerVAR_073586
275SCN1Ap.Asn1476LysVAR_073588
276SCN1Ap.Asp1484GlyVAR_073591
277SCN1Ap.Asn1485TyrVAR_073592
278SCN1Ap.Glu1503LysVAR_073593
279SCN1Ap.Met1511LysVAR_073595
280SCN1Ap.Val1538IleVAR_073596rs780360360
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_073608rs373967247
292SCN1Ap.Val1630LeuVAR_073609
293SCN1Ap.Ile1638AsnVAR_073610
294SCN1Ap.Ile1638ThrVAR_073611
295SCN1Ap.Arg1639GlyVAR_073612
296SCN1Ap.Arg1642SerVAR_073613
297SCN1Ap.Ala1653GluVAR_073614
298SCN1Ap.Leu1660ProVAR_073615
299SCN1Ap.Ala1662ValVAR_073616rs794726839
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_073654rs201905405

Clinvar genetic disease variations for Dravet Syndrome:

5 (show all 282)
id Gene Variation Type Significance SNP ID Assembly Location
1SCN1ANM_006920.4(SCN1A): c.4910G> A (p.Arg1637His)SNVPathogenicrs121918622GRCh37Chr 2, 166848842: 166848842
2SCN1ASCN1A, 2-BP DEL, 657AGdeletionPathogenicChr na, -1: -1
3SCN1ANM_001165963.1(SCN1A): c.664C> T (p.Arg222Ter)SNVPathogenicrs121918624GRCh37Chr 2, 166909392: 166909392
4SCN1ANM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe)SNVPathogenicrs121918625GRCh37Chr 2, 166893031: 166893031
5SCN1ANM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile)SNVPathogenicrs121918629GRCh37Chr 2, 166848659: 166848659
6SCN1ANM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe)SNVPathogenicrs121918630GRCh37Chr 2, 166850677: 166850677
7SCN1ASCN1A, 1-BP DEL, 2528GdeletionPathogenicChr na, -1: -1
8SCN1ASCN1A, DEL EX21-26deletionPathogenicChr na, -1: -1
9SCN1ASCN1A, 6.5-KB DELdeletionPathogenicChr na, -1: -1
10SCN1ASCN1A, 1-BP DEL, 3608AdeletionPathogenicChr na, -1: -1
11SCN9ANM_002977.3(SCN9A): c.554G> A (p.Arg185His)SNVPathogenicrs73969684GRCh38Chr 2, 166305834: 166305834
12SCN1ANM_001165963.1(SCN1A): c.3733C> T (p.Arg1245Ter)SNVPathogenicrs727504136GRCh37Chr 2, 166868765: 166868765
13SCN1ANM_006920.4(SCN1A): c.2557-2A> GSNVPathogenicrs727504140GRCh37Chr 2, 166894644: 166894644
14SCN1ANM_001165963.1(SCN1A): c.2420dupT (p.Thr808Hisfs)duplicationPathogenicrs786200989GRCh37Chr 2, 166896102: 166896102
15SCN1ANM_001165963.1(SCN1A): c.694+5G> CSNVPathogenicrs727504142GRCh37Chr 2, 166909357: 166909357
16SCN1ANM_001165963.1(SCN1A): c.1118delT (p.Leu373Cysfs)deletionPathogenicrs794726695GRCh37Chr 2, 166904189: 166904189
17SCN1ANM_001165963.1(SCN1A): c.4351C> A (p.Pro1451Thr)SNVPathogenicrs794726696GRCh38Chr 2, 165998163: 165998163
18SCN1ANM_001165963.1(SCN1A): c.2593C> T (p.Arg865Ter)SNVPathogenicrs794726697GRCh37Chr 2, 166894639: 166894639
19SCN1ANM_001165963.1(SCN1A): c.5003C> G (p.Pro1668Arg)SNVPathogenicrs794726698GRCh37Chr 2, 166848782: 166848782
20SCN1ANM_001165963.1(SCN1A): c.4302G> A (p.Trp1434Ter)SNVPathogenicrs794726699GRCh37Chr 2, 166856269: 166856269
21SCN1ANM_001165963.1(SCN1A): c.3879+1G> TSNVPathogenicrs794726700GRCh37Chr 2, 166868618: 166868618
22SCN1ANM_001165963.1(SCN1A): c.1624C> T (p.Arg542Ter)SNVPathogenicrs138877187GRCh37Chr 2, 166901591: 166901591
23SCN1ANM_001165963.1(SCN1A): c.4879_4883dupAAGTA (p.Tyr1628Terfs)duplicationPathogenicrs794726701GRCh38Chr 2, 165992392: 165992396
24SCN1ANM_001165963.1(SCN1A): c.5250_5251insGG (p.Ser1751Glyfs)insertionPathogenicrs794726702GRCh37Chr 2, 166848534: 166848535
25SCN1ANM_001165963.1(SCN1A): c.5250_5252delCTC (p.Ser1750_Ser1751delinsArg)deletionPathogenicrs794726703GRCh38Chr 2, 165992023: 165992025
26SCN1ANM_001165963.1(SCN1A): c.2044_6030deldeletionPathogenicChr na, -1: -1
27SCN1ANM_001165963.1(SCN1A): c.1667delT (p.Leu556Cysfs)deletionPathogenicrs794726704GRCh37Chr 2, 166900555: 166900555
28SCN1ANM_001165963.1(SCN1A): c.4244_4245delTT (p.Phe1415Terfs)deletionPathogenicrs794726705GRCh38Chr 2, 166002511: 166002512
29SCN1ANM_001165963.1(SCN1A): c.3726_3727insAT (p.Asp1243Metfs)insertionPathogenicrs794726706GRCh37Chr 2, 166868771: 166868772
30SCN1ANM_001165963.1(SCN1A): c.4088T> A (p.Ile1363Asn)SNVPathogenicrs794726707GRCh37Chr 2, 166859178: 166859178
31SCN1ANM_001165963.1(SCN1A): c.2584C> T (p.Arg862Ter)SNVPathogenicrs397514459GRCh37Chr 2, 166895938: 166895938
32SCN1ANM_001165963.1(SCN1A): c.2879T> G (p.Met960Arg)SNVPathogenicrs794726708GRCh37Chr 2, 166894353: 166894353
33SCN1ANM_001165963.1(SCN1A): c.5536A> T (p.Lys1846Ter)SNVPathogenicrs372098964GRCh37Chr 2, 166848249: 166848249
34SCN1ANM_001165963.1(SCN1A): c.3802_3812delCTTCTAAAATG (p.Leu1268Glyfs)deletionPathogenicrs794726709GRCh38Chr 2, 166012176: 166012186
35SCN1ANM_001165963.1(SCN1A): c.3637C> T (p.Arg1213Ter)SNVPathogenicrs794726710GRCh37Chr 2, 166870322: 166870322
36SCN1ANM_001165963.1(SCN1A): c.337C> A (p.Pro113Thr)SNVPathogenicrs794726711GRCh37Chr 2, 166915126: 166915126
37SCN1ANM_001165963.1(SCN1A): c.2588T> G (p.Leu863Trp)SNVPathogenicrs794726712GRCh37Chr 2, 166895934: 166895934
38SCN1ANM_001165963.1(SCN1A): c.1076A> G (p.Asn359Ser)SNVPathogenicrs794726713GRCh37Chr 2, 166904231: 166904231
39SCN1ANM_001165963.1(SCN1A): c.2946+1_2946+2delGTdeletionPathogenicrs794726714GRCh37Chr 2, 166894284: 166894285
40SCN1ANM_001165963.1(SCN1A): c.2946delG (p.Val983Serfs)deletionPathogenicrs794726715GRCh37Chr 2, 166894286: 166894286
41SCN1ANM_001165963.1(SCN1A): c.2876G> A (p.Cys959Tyr)SNVPathogenicrs794726716GRCh37Chr 2, 166894356: 166894356
42SCN1ANM_001165963.1(SCN1A): c.1659dupC (p.Gln554Profs)duplicationPathogenicrs794726717GRCh37Chr 2, 166901556: 166901556
43SCN1ANM_001165963.1(SCN1A): c.2792G> A (p.Arg931His)SNVPathogenicrs794726718GRCh37Chr 2, 166894440: 166894440
44SCN1ANM_001165963.1(SCN1A): c.4906C> T (p.Arg1636Ter)SNVPathogenicrs199727342GRCh38Chr 2, 165992369: 165992369
45SCN1ANM_001165963.1(SCN1A): c.675G> C (p.Lys225Asn)SNVPathogenicrs794726719GRCh37Chr 2, 166909381: 166909381
46SCN1ANM_001165963.1(SCN1A): c.1072C> T (p.Pro358Ser)SNVPathogenicrs121917923GRCh37Chr 2, 166904235: 166904235
47SCN1ANM_001165963.1(SCN1A): c.3615G> A (p.Trp1205Ter)SNVPathogenicrs794726720GRCh37Chr 2, 166870344: 166870344
48SCN1ANM_001165963.1(SCN1A): c.2728C> A (p.Gln910Lys)SNVPathogenicrs794726721GRCh37Chr 2, 166894504: 166894504
49SCN1ANM_001165963.1(SCN1A): c.474_602del129 (p.Thr160_Tyr202del)deletionPathogenicGRCh37Chr 2, 166911148: 166911276
50SCN1ANM_001165963.1(SCN1A): c.5264A> G (p.Asp1755Gly)SNVPathogenicrs794726722GRCh37Chr 2, 166848521: 166848521
51SCN1ANM_001165963.1(SCN1A): c.3970_3971dupCT (p.Arg1325Terfs)duplicationPathogenicrs794726723GRCh37Chr 2, 166866260: 166866261
52SCN1ANM_001165963.1(SCN1A): c.659_662delTTCT (p.Val220Alafs)deletionPathogenicrs794726724GRCh37Chr 2, 166909394: 166909397
53SCN1ANM_001165963.1(SCN1A): c.3763G> C (p.Ala1255Pro)SNVPathogenicrs777939538GRCh37Chr 2, 166868735: 166868735
54SCN1ANM_001165963.1(SCN1A): c.1199T> A (p.Met400Lys)SNVPathogenicrs794726725GRCh37Chr 2, 166903458: 166903458
55SCN1ANM_001165963.1(SCN1A): c.5536_5539delAAAC (p.Lys1846Serfs)deletionPathogenicrs794726726GRCh37Chr 2, 166848246: 166848249
56SCN1ANM_001165963.1(SCN1A): c.2837G> C (p.Arg946Pro)SNVPathogenicrs121917971GRCh37Chr 2, 166894395: 166894395
57SCN1ANM_001165963.1(SCN1A): c.3730C> T (p.Gln1244Ter)SNVPathogenicrs794726727GRCh37Chr 2, 166868768: 166868768
58SCN1ANM_001165963.1(SCN1A): c.3455C> A (p.Ser1152Ter)SNVPathogenicrs794726728GRCh38Chr 2, 166015702: 166015702
59SCN1ANM_001165963.1(SCN1A): c.3477delC (p.Ile1159Metfs)deletionPathogenicrs794726729GRCh37Chr 2, 166872190: 166872190
60SCN1ANM_001165963.1(SCN1A): c.2134C> T (p.Arg712Ter)SNVPathogenicrs794726730GRCh37Chr 2, 166898844: 166898844
61SCN1ANM_001165963.1(SCN1A): c.3828T> A (p.Tyr1276Ter)SNVPathogenicrs794726731GRCh38Chr 2, 166012160: 166012160
62SCN1ANM_001165963.1(SCN1A): c.1136T> A (p.Met379Lys)SNVPathogenicrs794726732GRCh37Chr 2, 166904171: 166904171
63SCN1ANM_001165963.1(SCN1A): c.3439G> T (p.Glu1147Ter)SNVPathogenicrs794726733GRCh38Chr 2, 166015718: 166015718
64SCN1ANM_001165963.1(SCN1A): c.4338+4A> CSNVPathogenicrs794726734GRCh38Chr 2, 165999719: 165999719
65SCN1ANM_001165963.1(SCN1A): c.3705+2T> ASNVPathogenicrs794726735GRCh37Chr 2, 166870252: 166870252
66SCN1ANM_001165963.1(SCN1A): c.1738C> T (p.Arg580Ter)SNVPathogenicrs794726736GRCh38Chr 2, 166043974: 166043974
67SCN1ANM_001165963.1(SCN1A): c.5780G> C (p.Arg1927Thr)SNVPathogenicrs794726737GRCh38Chr 2, 165991495: 165991495
68SCN1ANM_001165963.1(SCN1A): c.121A> T (p.Lys41Ter)SNVPathogenicrs764444350GRCh37Chr 2, 166930011: 166930011
69SCN1ANM_001165963.1(SCN1A): c.2523_2524delGC (p.Leu842Terfs)deletionPathogenicrs794726738GRCh37Chr 2, 166895998: 166895999
70SCN1ANM_001165963.1(SCN1A): c.5674C> T (p.Arg1892Ter)SNVPathogenicrs794726739GRCh37Chr 2, 166848111: 166848111
71SCN1ANM_001165963.1(SCN1A): c.5014A> C (p.Asn1672His)SNVPathogenicrs794726740GRCh37Chr 2, 166848771: 166848771
72SCN1ANM_001165963.1(SCN1A): c.5349_5352dupGGTC (p.Ile1785Glyfs)duplicationPathogenicrs794726741GRCh37Chr 2, 166848433: 166848436
73SCN1ANM_001165963.1(SCN1A): c.308G> T (p.Ser103Ile)SNVPathogenicrs760361423GRCh37Chr 2, 166915155: 166915155
74SCN1ANM_001165963.1(SCN1A): c.2213G> T (p.Trp738Leu)SNVPathogenicrs794726742GRCh37Chr 2, 166897943: 166897943
75SCN1ANM_001165963.1(SCN1A): c.2261G> T (p.Trp754Leu)SNVPathogenicrs794726743GRCh37Chr 2, 166897895: 166897895
76SCN1ANM_001165963.1(SCN1A): c.3705+1G> ASNVPathogenicrs794726744GRCh37Chr 2, 166870253: 166870253
77SCN1ANM_001165963.1(SCN1A): c.4188C> A (p.Cys1396Ter)SNVPathogenicrs794726745GRCh38Chr 2, 166002568: 166002568
78SCN1ANM_001165963.1(SCN1A): c.530G> T (p.Gly177Val)SNVPathogenicrs121918770GRCh37Chr 2, 166911220: 166911220
79SCN1ANM_001165963.1(SCN1A): c.2985T> G (p.Phe995Leu)SNVPathogenicrs794726746GRCh37Chr 2, 166893002: 166893002
80SCN1ANM_001165963.1(SCN1A): c.2071A> T (p.Lys691Ter)SNVPathogenicrs794726747GRCh38Chr 2, 166042397: 166042397
81SCN1ANM_001165963.1(SCN1A): c.5082T> G (p.Tyr1694Ter)SNVPathogenicrs794726748GRCh38Chr 2, 165992193: 165992193
82SCN1ANM_001165963.1(SCN1A): c.1662+1G> TSNVPathogenicrs794726749GRCh37Chr 2, 166901552: 166901552
83SCN1ANM_001165963.1(SCN1A): c.2299_2302dupGACC (p.Pro768Argfs)duplicationPathogenicrs794726750GRCh37Chr 2, 166897854: 166897857
84SCN1ANM_001165963.1(SCN1A): c.751delA (p.Met251Terfs)deletionPathogenicrs794726751GRCh37Chr 2, 166908442: 166908442
85SCN1ANM_001165963.1(SCN1A): c.4573C> T (p.Arg1525Ter)SNVPathogenicrs794726752GRCh38Chr 2, 165996021: 165996021
86SCN1ANM_001165963.1(SCN1A): c.5656C> T (p.Arg1886Ter)SNVPathogenicrs779614747GRCh38Chr 2, 165991619: 165991619
87SCN1ANM_001165963.1(SCN1A): c.1146C> A (p.Asp382Glu)SNVPathogenicrs794726753GRCh37Chr 2, 166904161: 166904161
88SCN1ANM_001165963.1(SCN1A): c.5010_5013delGTTT (p.Phe1671Thrfs)deletionPathogenicrs794726754GRCh38Chr 2, 165992262: 165992265
89SCN1ANM_001165963.1(SCN1A): c.728C> A (p.Ser243Tyr)SNVPathogenicrs794726755GRCh37Chr 2, 166908465: 166908465
90SCN1ANM_001165963.1(SCN1A): c.3062_3066delAAGGA (p.Lys1021Serfs)deletionPathogenicrs794726756GRCh37Chr 2, 166892921: 166892925
91SCN1ANM_001165963.1(SCN1A): c.2353A> G (p.Met785Val)SNVPathogenicrs767045134GRCh37Chr 2, 166897803: 166897803
92SCN1ANM_001165963.1(SCN1A): c.4611_4645dup35 (p.Ile1549Thrfs)duplicationPathogenicrs794726757GRCh37Chr 2, 166850863: 166850897
93SCN1ANM_001165963.1(SCN1A): c.5003delC (p.Pro1668Leufs)deletionPathogenicrs794726758GRCh37Chr 2, 166848782: 166848782
94SCN1ANM_001165963.1(SCN1A): c.1265T> C (p.Val422Ala)SNVPathogenicrs121917989GRCh37Chr 2, 166903392: 166903392
95SCN1ANM_001165963.1(SCN1A): c.4933C> T (p.Arg1645Ter)SNVPathogenicrs794726759GRCh38Chr 2, 165992342: 165992342
96SCN1ANM_001165963.1(SCN1A): c.4997C> T (p.Ser1666Phe)SNVPathogenicrs794726760GRCh37Chr 2, 166848788: 166848788
97SCN1ANM_001165963.1(SCN1A): c.4547C> G (p.Ser1516Trp)SNVPathogenicrs139300715GRCh37Chr 2, 166852557: 166852557
98SCN1ANM_001165963.1(SCN1A): c.2690T> C (p.Leu897Ser)SNVPathogenicrs794726761GRCh37Chr 2, 166894542: 166894542
99SCN1ANM_001165963.1(SCN1A): c.264+5G> CSNVPathogenicrs794726762GRCh38Chr 2, 166073353: 166073353
100SCN1ANM_001165963.1(SCN1A): c.5222G> A (p.Cys1741Tyr)SNVPathogenicrs794726763GRCh38Chr 2, 165992053: 165992053
101SCN1ANM_001165963.1(SCN1A): c.384-1C> GSNVPathogenicrs794726764GRCh37Chr 2, 166913011: 166913011
102SCN1ANM_001165963.1(SCN1A): c.1170+1G> TSNVPathogenicrs794726765GRCh37Chr 2, 166904136: 166904136
103SCN1ANM_001165963.1(SCN1A): c.2303C> T (p.Pro768Leu)SNVPathogenicrs794726766GRCh37Chr 2, 166897853: 166897853
104SCN1ANM_001165963.1(SCN1A): c.1055_1056delTG (p.Val352Glufs)deletionPathogenicrs794726767GRCh37Chr 2, 166904251: 166904252
105SCN1ANM_001165963.1(SCN1A): c.1048A> G (p.Met350Val)SNVPathogenicrs794726768GRCh37Chr 2, 166904259: 166904259
106SCN1ANM_001165963.1(SCN1A): c.5470G> T (p.Glu1824Ter)SNVPathogenicrs794726769GRCh37Chr 2, 166848315: 166848315
107SCN1ANM_001165963.1(SCN1A): c.3706G> C (p.Ala1236Pro)SNVPathogenicrs794726770GRCh37Chr 2, 166868792: 166868792
108SCN1ANM_001165963.1(SCN1A): c.769T> C (p.Cys257Arg)SNVLikely pathogenic, Pathogenicrs794726771GRCh37Chr 2, 166908424: 166908424
109SCN1ANM_001165963.1(SCN1A): c.2946+1G> TSNVPathogenicrs794726772GRCh37Chr 2, 166894285: 166894285
110SCN1ANM_001165963.1(SCN1A): c.1662+3A> GSNVPathogenicrs794726773GRCh37Chr 2, 166901550: 166901550
111SCN1ANM_001165963.1(SCN1A): c.3487delG (p.Val1163Terfs)deletionPathogenicrs794726774GRCh37Chr 2, 166872180: 166872180
112SCN1ANM_001165963.1(SCN1A): c.2589+3A> TSNVPathogenicrs794726775GRCh37Chr 2, 166895930: 166895930
113SCN1ANM_001165963.1(SCN1A): c.1183_1184delGC (p.Ala395Trpfs)deletionPathogenicrs794726776GRCh37Chr 2, 166903473: 166903474
114SCN1ANM_001165963.1(SCN1A): c.1182_1183insA (p.Ala395Serfs)insertionPathogenicrs794726777GRCh37Chr 2, 166903474: 166903475
115SCN1ANM_001165963.1(SCN1A): c.1834C> T (p.Arg612Ter)SNVPathogenicrs794726778GRCh37Chr 2, 166900388: 166900388
116SCN1ANM_001165963.1(SCN1A): c.4086C> G (p.Ser1362Arg)SNVPathogenicrs794726779GRCh38Chr 2, 166002670: 166002670
117SCN1ANM_001165963.1(SCN1A): c.5404G> T (p.Glu1802Ter)SNVPathogenicrs794726780GRCh37Chr 2, 166848381: 166848381
118SCN1ANM_001165963.1(SCN1A): c.5461C> T (p.Gln1821Ter)SNVPathogenicrs794726781GRCh37Chr 2, 166848324: 166848324
119SCN1ANM_001165963.1(SCN1A): c.1033T> C (p.Cys345Arg)SNVPathogenicrs794726782GRCh37Chr 2, 166904274: 166904274
120SCN1ANM_001165963.1(SCN1A): c.5334delG (p.Asn1779Thrfs)deletionPathogenicrs794726783GRCh37Chr 2, 166848451: 166848451
121SCN1ANM_001165963.1(SCN1A): c.4223G> A (p.Trp1408Ter)SNVPathogenicrs794726784GRCh37Chr 2, 166859043: 166859043
122SCN1ANM_001165963.1(SCN1A): c.4823delA (p.Asp1608Valfs)deletionPathogenicrs794726785GRCh37Chr 2, 166850685: 166850685
123SCN1ANM_001165963.1(SCN1A): c.2615C> A (p.Ser872Tyr)SNVPathogenicrs794726786GRCh37Chr 2, 166894617: 166894617
124SCN1ANM_001165963.1(SCN1A): c.2603delA (p.Lys868Serfs)deletionPathogenicrs794726787GRCh37Chr 2, 166894629: 166894629
125SCN1ANM_001165963.1(SCN1A): c.896_905delATTATAATGG (p.Asn299Ilefs)deletionPathogenicrs794726788GRCh37Chr 2, 166908288: 166908297
126SCN1ANM_001165963.1(SCN1A): c.4016C> T (p.Ala1339Val)SNVPathogenicrs794726789GRCh38Chr 2, 166002740: 166002740
127SCN1ANM_001165963.1(SCN1A): c.1516C> T (p.Gln506Ter)SNVPathogenicrs794726790GRCh37Chr 2, 166901699: 166901699
128SCN1ANM_001165963.1(SCN1A): c.185delC (p.Pro62Hisfs)deletionPathogenicrs794726791GRCh37Chr 2, 166929947: 166929947
129SCN1ANM_001165963.1(SCN1A): c.1096_1115del20 (p.Asp366Phefs)deletionPathogenicrs794726792GRCh37Chr 2, 166904192: 166904211
130SCN1ANM_001165963.1(SCN1A): c.323T> C (p.Leu108Pro)SNVPathogenicrs794726793GRCh37Chr 2, 166915140: 166915140
131SCN1ANM_001165963.1(SCN1A): c.2537A> G (p.Glu846Gly)SNVPathogenicrs794726794GRCh37Chr 2, 166895985: 166895985
132SCN1ANM_001165963.1(SCN1A): c.2176+3T> ASNVPathogenicrs794726795GRCh37Chr 2, 166898799: 166898799
133SCN1ANM_001165963.1(SCN1A): c.289_292delAAGG (p.Lys97Profs)deletionPathogenicrs794726796GRCh37Chr 2, 166915171: 166915174
134SCN1ANM_001165963.1(SCN1A): c.1025C> T (p.Ala342Val)SNVPathogenicrs794726797GRCh37Chr 2, 166905399: 166905399
135SCN1ANM_001165963.1(SCN1A): c.2792G> C (p.Arg931Pro)SNVLikely pathogenic, Pathogenicrs794726718GRCh37Chr 2, 166894440: 166894440
136SCN1ANM_001165963.1(SCN1A): c.1007G> A (p.Cys336Tyr)SNVPathogenicrs794726798GRCh37Chr 2, 166905417: 166905417
137SCN1ANM_001165963.1(SCN1A): c.1129C> T (p.Arg377Ter)SNVPathogenicrs794726799GRCh37Chr 2, 166904178: 166904178
138SCN1ANM_001165963.1(SCN1A): c.4811G> A (p.Trp1604Ter)SNVPathogenicrs794726800GRCh38Chr 2, 165994187: 165994187
139SCN1ANM_001165963.1(SCN1A): c.5515C> G (p.Leu1839Val)SNVPathogenicrs794726801GRCh38Chr 2, 165991760: 165991760
140SCN1ANM_001165963.1(SCN1A): c.5108A> T (p.Asp1703Val)SNVPathogenicrs794726802GRCh37Chr 2, 166848677: 166848677
141SCN1ANM_001165963.1(SCN1A): c.383+1A> GSNVPathogenicrs794726803GRCh37Chr 2, 166915079: 166915079
142SCN1ANM_001165963.1(SCN1A): c.3899C> G (p.Thr1300Arg)SNVPathogenicrs146878122GRCh38Chr 2, 166009822: 166009822
143SCN1ANM_001165963.1(SCN1A): c.2213G> A (p.Trp738Ter)SNVPathogenicrs794726742GRCh38Chr 2, 166041433: 166041433
144SCN1ANM_001165963.1(SCN1A): c.5106T> A (p.Asp1702Glu)SNVPathogenicrs794726804GRCh37Chr 2, 166848679: 166848679
145SCN1ANM_001165963.1(SCN1A): c.2479T> G (p.Tyr827Asp)SNVPathogenicrs794726805GRCh37Chr 2, 166896043: 166896043
146SCN1ANM_001165963.1(SCN1A): c.2100delC (p.Met701Trpfs)deletionPathogenicrs794726806GRCh37Chr 2, 166898878: 166898878
147SCN1ANM_001165963.1(SCN1A): c.1345G> T (p.Glu449Ter)SNVPathogenicrs794726807GRCh37Chr 2, 166903312: 166903312
148SCN1ANM_001165963.1(SCN1A): c.2869_2878delTGGGACTGTA (p.Asp958Argfs)deletionPathogenicrs794726808GRCh38Chr 2, 166037844: 166037853
149SCN1ANM_001165963.1(SCN1A): c.3106C> T (p.Gln1036Ter)SNVPathogenicrs542420576GRCh38Chr 2, 166036371: 166036371
150SCN1ANM_001165963.1(SCN1A): c.4412C> T (p.Ser1471Phe)SNVPathogenicrs794726809GRCh37Chr 2, 166854612: 166854612
151SCN1ANM_001165963.1(SCN1A): c.1301delT (p.Leu434Trpfs)deletionPathogenicrs794726810GRCh37Chr 2, 166903356: 166903356
152SCN1ANM_001165963.1(SCN1A): c.2780G> T (p.Cys927Phe)SNVPathogenicrs794726811GRCh37Chr 2, 166894452: 166894452
153SCN1ANM_001165963.1(SCN1A): c.825_826insGTATA (p.Lys276Valfs)insertionPathogenicrs794726812GRCh37Chr 2, 166908367: 166908368
154SCN1ANM_001165963.1(SCN1A): c.3017delA (p.Asp1006Valfs)deletionPathogenicrs794726813GRCh37Chr 2, 166892970: 166892970
155SCN1ANM_001165963.1(SCN1A): c.384_964deldeletionPathogenicChr na, -1: -1
156SCN1ANM_001165963.1(SCN1A): c.747T> G (p.Asp249Glu)SNVPathogenicrs773407463GRCh37Chr 2, 166908446: 166908446
157SCN1ANM_001165963.1(SCN1A): c.5284_5291dupGGAATTTT (p.Phe1764Leufs)duplicationPathogenicrs794726814GRCh37Chr 2, 166848494: 166848501
158SCN1ANM_001165963.1(SCN1A): c.2678T> A (p.Leu893Ter)SNVPathogenicrs794726815GRCh37Chr 2, 166894554: 166894554
159SCN1ANM_001165963.1(SCN1A): c.3880-2A> GSNVPathogenicrs794726816GRCh38Chr 2, 166009843: 166009843
160SCN1ANM_001165963.1(SCN1A): c.3757G> T (p.Glu1253Ter)SNVPathogenicrs794726817GRCh38Chr 2, 166012231: 166012231
161SCN1ANM_001165963.1(SCN1A): c.1197_1198delCA (p.Met400Aspfs)deletionPathogenicrs794726818GRCh37Chr 2, 166903459: 166903460
162SCN1ANM_001165963.1(SCN1A): c.4993_4996dupATGT (p.Ser1666Tyrfs)duplicationPathogenicrs794726819GRCh37Chr 2, 166848789: 166848792
163SCN1ANM_001165963.1(SCN1A): c.2318_2319insT (p.Ile774Hisfs)insertionPathogenicrs794726820GRCh37Chr 2, 166897837: 166897838
164SCN1ANM_001165963.1(SCN1A): c.4055T> C (p.Leu1352Pro)SNVPathogenicrs794726821GRCh37Chr 2, 166859211: 166859211
165SCN1ANM_001165963.1(SCN1A): c.4044G> A (p.Met1348Ile)SNVPathogenicrs794726822GRCh37Chr 2, 166859222: 166859222
166SCN1ANM_001165963.1(SCN1A): c.2903G> T (p.Cys968Phe)SNVPathogenicrs794726823GRCh37Chr 2, 166894329: 166894329
167SCN1ANM_001165963.1(SCN1A): c.965-1G> ASNVPathogenicrs794726824GRCh37Chr 2, 166905460: 166905460
168SCN1ANM_001165963.1(SCN1A): c.4554delA (p.Lys1518Asnfs)deletionPathogenicrs794726825GRCh37Chr 2, 166852550: 166852550
169SCN1ANM_001165963.1(SCN1A): c.4285_4476deldeletionPathogenicChr na, -1: -1
170SCN1ANM_001165963.1(SCN1A): c.1259C> T (p.Ala420Val)SNVPathogenicrs794726826GRCh37Chr 2, 166903398: 166903398
171SCN1ANM_001165963.1(SCN1A): c.602+1G> TSNVPathogenicrs794726827GRCh37Chr 2, 166911147: 166911147
172SCN1ANM_001165963.1(SCN1A): c.4766T> G (p.Val1589Gly)SNVPathogenicrs764037830GRCh37Chr 2, 166850742: 166850742
173SCN1ANM_001165963.1(SCN1A): c.2929G> A (p.Val977Met)SNVPathogenicrs794726828GRCh37Chr 2, 166894303: 166894303
174SCN1ANM_001165963.1(SCN1A): c.1439_1442delCAGA (p.Asp481Alafs)deletionPathogenicrs794726829GRCh37Chr 2, 166901773: 166901776
175SCN1ANM_001165963.1(SCN1A): c.2980_2981delTC (p.Ser994Ilefs)deletionPathogenicrs794726830GRCh37Chr 2, 166893006: 166893007
176SCN1ANM_001165963.1(SCN1A): c.380A> T (p.His127Leu)SNVPathogenicrs794726831GRCh37Chr 2, 166915083: 166915083
177SCN1ANM_001165963.1(SCN1A): c.5297_5298delTT (p.Phe1766Cysfs)deletionPathogenicrs794726832GRCh37Chr 2, 166848487: 166848488
178SCN1ANM_001165963.1(SCN1A): c.602+3A> CSNVPathogenicrs794726833GRCh37Chr 2, 166911145: 166911145
179SCN1ANM_001165963.1(SCN1A): c.4934G> C (p.Arg1645Pro)SNVPathogenicrs121917976GRCh38Chr 2, 165992341: 165992341
180SCN1ANM_001165963.1(SCN1A): c.1804G> T (p.Glu602Ter)SNVPathogenicrs794726834GRCh37Chr 2, 166900418: 166900418
181SCN1ANM_001165963.1(SCN1A): c.4549A> T (p.Lys1517Ter)SNVPathogenicrs794726835GRCh38Chr 2, 165996045: 165996045
182SCN1ANM_001165963.1(SCN1A): c.3550+1G> ASNVPathogenicrs794726836GRCh37Chr 2, 166872116: 166872116
183SCN1ANM_001165963.1(SCN1A): c.964+14T> GSNVPathogenicrs794726837GRCh37Chr 2, 166908215: 166908215
184SCN1ANM_001165963.1(SCN1A): c.1970C> T (p.Pro657Leu)SNVPathogenicrs794726838GRCh37Chr 2, 166900252: 166900252
185SCN1ANM_001165963.1(SCN1A): c.4985C> T (p.Ala1662Val)SNVPathogenicrs794726839GRCh37Chr 2, 166848800: 166848800
186SCN1ANM_001165963.1(SCN1A): c.473+1G> CSNVPathogenicrs794726840GRCh37Chr 2, 166912920: 166912920
187SCN1ANM_001165963.1(SCN1A): c.3818C> T (p.Ala1273Val)SNVPathogenicrs794726841GRCh38Chr 2, 166012170: 166012170
188SCN1ANM_001165963.1(SCN1A): c.4168G> C (p.Val1390Leu)SNVPathogenicrs121917986GRCh37Chr 2, 166859098: 166859098
189SCN1ANM_001165963.1(SCN1A): c.4338_6030deldeletionPathogenicChr na, -1: -1
190SCN1ANM_001165963.1(SCN1A): c.2936G> A (p.Gly979Glu)SNVPathogenicrs794726842GRCh37Chr 2, 166894296: 166894296
191SCN1ANM_001165963.1(SCN1A): c.1024G> T (p.Ala342Ser)SNVPathogenicrs794726843GRCh37Chr 2, 166905400: 166905400
192SCN1ANM_001165963.1(SCN1A): c.1046A> G (p.Tyr349Cys)SNVPathogenicrs794726844GRCh37Chr 2, 166904261: 166904261
193SCN1ANM_001165963.1(SCN1A): c.5662C> T (p.Gln1888Ter)SNVPathogenicrs794726845GRCh37Chr 2, 166848123: 166848123
194SCN1ANM_001165963.1(SCN1A): c.930_931dupTG (p.Glu311Valfs)duplicationPathogenicrs794726846GRCh37Chr 2, 166908262: 166908263
195SCN1ANM_001165963.1(SCN1A): c.826A> C (p.Lys276Gln)SNVPathogenicrs794726847GRCh37Chr 2, 166908367: 166908367
196SCN1ANM_001165963.1(SCN1A): c.1663_2176deldeletionPathogenicChr na, -1: -1
197SCN1ANM_001165963.1(SCN1A): c.70G> A (p.Ala24Thr)SNVPathogenicrs794726848GRCh37Chr 2, 166930062: 166930062
198SCN1ANM_001165963.1(SCN1A): c.433A> G (p.Met145Val)SNVPathogenicrs794726849GRCh37Chr 2, 166912961: 166912961
199SCN1ANM_001165963.1(SCN1A): c.4829_4830dupTG (p.Val1611Trpfs)duplicationPathogenicrs794726850GRCh37Chr 2, 166850678: 166850679
200SCN1ANM_001165963.1(SCN1A): c.5063G> T (p.Gly1688Val)SNVPathogenicrs794726851GRCh38Chr 2, 165992212: 165992212
201SCN1ANM_001165963.1(SCN1A): c.384_1662dupduplicationPathogenicChr na, -1: -1
202SCN1ANM_001165963.1(SCN1A): c.3821A> C (p.Tyr1274Ser)SNVPathogenicrs794726852GRCh37Chr 2, 166868677: 166868677
203SCN1ANM_001165963.1(SCN1A): c.3858G> A (p.Trp1286Ter)SNVPathogenicrs794726853GRCh37Chr 2, 166868640: 166868640
204SCN1ANM_001165963.1(SCN1A): c.384_473del90 (p.Leu129_Glu158del)deletionPathogenicGRCh37Chr 2, 166912921: 166913010
205SCN1ANM_001165963.1(SCN1A): c.3661G> C (p.Glu1221Gln)SNVPathogenicrs794726854GRCh37Chr 2, 166870298: 166870298
206SCN1ANM_006920.4(SCN1A): c.4191G> A (p.Trp1397Ter)SNVPathogenicrs794727337GRCh37Chr 2, 166859042: 166859042
207SCN1ANM_006920.4(SCN1A): c.5356G> C (p.Ala1786Pro)SNVLikely pathogenicrs794727413GRCh37Chr 2, 166848396: 166848396
208SCN1ANM_001165963.1(SCN1A): c.602+1G> ASNVPathogenicrs794726827GRCh37Chr 2, 166911147: 166911147
209SCN1ANM_006920.4(SCN1A): c.830delG (p.Cys277Leufs)deletionPathogenicrs794727786GRCh37Chr 2, 166908363: 166908363
210SCN1ANM_001165963.1(SCN1A): c.3985C> T (p.Arg1329Ter)SNVPathogenicrs796053004GRCh38Chr 2, 166009736: 166009736
211SCN1ANM_001165963.1(SCN1A): c.4476+1A> GSNVPathogenicrs796053014GRCh38Chr 2, 165998037: 165998037
212SCN1ANM_001165963.1(SCN1A): c.1028+1G> TSNVPathogenicrs863225030GRCh38Chr 2, 166048885: 166048885
213SCN1ANM_001165963.1(SCN1A): c.249C> A (p.Tyr83Ter)SNVPathogenicrs863225031GRCh37Chr 2, 166929883: 166929883
214SCN1ANM_001165963.1(SCN1A): c.264+5G> ASNVPathogenicrs794726762GRCh37Chr 2, 166929863: 166929863
215SCN1ANM_001165963.1(SCN1A): c.3306C> A (p.Tyr1102Ter)SNVPathogenicrs863225032GRCh38Chr 2, 166036171: 166036171
216SCN1ANM_001165963.1(SCN1A): c.3657G> A (p.Trp1219Ter)SNVPathogenicrs863225033GRCh37Chr 2, 166870302: 166870302
217SCN1ANM_001165963.1(SCN1A): c.3852delG (p.Trp1284Cysfs)deletionPathogenicrs863225034GRCh37Chr 2, 166868646: 166868646
218SCN1ANM_001165963.1(SCN1A): c.4266T> A (p.Tyr1422Ter)SNVPathogenicrs863225035GRCh37Chr 2, 166859000: 166859000
219SCN1ANM_001165963.1(SCN1A): c.4477-2A> GSNVPathogenicrs863225036GRCh37Chr 2, 166852629: 166852629
220SCN1ANM_001165963.1(SCN1A): c.5436G> A (p.Trp1812Ter)SNVPathogenicrs863225037GRCh37Chr 2, 166848349: 166848349
221SCN1ANM_001165963.1(SCN1A): c.992dupT (p.Leu331Phefs)duplicationPathogenicrs863225038GRCh37Chr 2, 166905432: 166905432
222SCN1ANM_006920.4(SCN1A): c.3671delT (p.Leu1224Argfs)deletionPathogenicrs869312670GRCh38Chr 2, 166013745: 166013745
223SCN1ANM_001165963.1(SCN1A): c.1025C> A (p.Ala342Glu)SNVLikely pathogenicrs794726797GRCh38Chr 2, 166048889: 166048889
224SCN1ANM_006920.4(SCN1A): c.1264G> A (p.Val422Met)SNVLikely pathogenicrs886042528GRCh37Chr 2, 166903393: 166903393
225SCN1ANM_006920.4(SCN1A): c.4779delG (p.Trp1593Terfs)deletionPathogenicrs886043532GRCh37Chr 2, 166850696: 166850696
226SCN1ANM_006920.4(SCN1A): c.1377+1G> CSNVPathogenicrs886043864GRCh37Chr 2, 166903279: 166903279
227SCN1ANM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu)SNVPathogenicrs397514458GRCh37Chr 2, 166848779: 166848779
228SCN1ANM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly)SNVPathogenicrs397514459GRCh37Chr 2, 166895938: 166895938
229SCN9ANM_002977.3(SCN9A): c.29A> G (p.Gln10Arg)SNVPathogenicrs267607030GRCh37Chr 2, 167168238: 167168238
230SCN1ANM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln)SNVLikely pathogenic, Pathogenicrs121917957GRCh37Chr 2, 166904177: 166904177
231SCN1ANM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys)SNVPathogenicrs121917929GRCh37Chr 2, 166903480: 166903480
232SCN1ANM_006920.4(SCN1A): c.1178G> A (p.Arg393His)SNVPathogenicrs121917927GRCh37Chr 2, 166903479: 166903479
233SCN1ANM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly)SNVPathogenicrs121917990GRCh37Chr 2, 166900346: 166900346
234SCN1ANM_006920.4(SCN1A): c.251A> G (p.Tyr84Cys)SNVPathogenicrs121917964GRCh37Chr 2, 166929881: 166929881
235SCN1ANM_006920.4(SCN1A): c.2804G> A (p.Arg935His)SNVPathogenicrs121917971GRCh37Chr 2, 166894395: 166894395
236SCN1ANM_006920.4(SCN1A): c.301C> T (p.Arg101Trp)SNVPathogenicrs121917965GRCh37Chr 2, 166915162: 166915162
237SCN1ANM_006920.4(SCN1A): c.302G> A (p.Arg101Gln)SNVPathogenicrs121917918GRCh37Chr 2, 166915161: 166915161
238SCN1ANM_006920.4(SCN1A): c.3701G> A (p.Arg1234Gln)SNVPathogenicrs121917912GRCh37Chr 2, 166868764: 166868764
239SCN1ANM_006920.4(SCN1A): c.3970G> A (p.Val1324Met)SNVPathogenicrs121917960GRCh37Chr 2, 166859263: 166859263
240SCN1ANM_006920.4(SCN1A): c.4135G> A (p.Val1379Met)SNVPathogenicrs121917986GRCh37Chr 2, 166859098: 166859098
241SCN1ANM_006920.4(SCN1A): c.4352A> G (p.Tyr1451Cys)SNVPathogenicrs121917962GRCh37Chr 2, 166854639: 166854639
242SCN1ANM_006920.4(SCN1A): c.4729T> C (p.Cys1577Arg)SNVPathogenicrs121917919GRCh37Chr 2, 166850746: 166850746
243SCN1ANM_006920.4(SCN1A): c.4789G> T (p.Asp1597Tyr)SNVPathogenicrs121917915GRCh37Chr 2, 166850686: 166850686
244SCN1ANM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln)SNVLikely pathogenic, Pathogenicrs121917995GRCh37Chr 2, 166848878: 166848878
245SCN1ANM_006920.4(SCN1A): c.4901G> A (p.Arg1634Gln)SNVPathogenicrs121917976GRCh37Chr 2, 166848851: 166848851
246SCN1ANM_006920.4(SCN1A): c.5113T> C (p.Cys1705Arg)SNVPathogenicrs121917926GRCh37Chr 2, 166848639: 166848639
247SCN1ANM_006920.4(SCN1A): c.5314G> A (p.Ala1772Thr)SNVPathogenicrs121917980GRCh37Chr 2, 166848438: 166848438
248SCN1ANM_006920.4(SCN1A): c.5315C> T (p.Ala1772Val)SNVPathogenicrs121917921GRCh37Chr 2, 166848437: 166848437
249SCN1ANM_006920.4(SCN1A): c.5732T> C (p.Ile1911Thr)SNVLikely pathogenicrs121917981GRCh37Chr 2, 166848020: 166848020
250SCN1ANM_006920.4(SCN1A): c.677C> T (p.Thr226Met)SNVPathogenicrs121917984GRCh37Chr 2, 166909379: 166909379
251SCN1ANM_006920.4(SCN1A): c.680T> G (p.Ile227Ser)SNVPathogenicrs121917937GRCh37Chr 2, 166909376: 166909376
252SCN1ANM_006920.4(SCN1A): c.715G> A (p.Ala239Thr)SNVPathogenicrs121917985GRCh37Chr 2, 166908478: 166908478
253SCN1ANM_006920.4(SCN1A): c.838T> C (p.Trp280Arg)SNVPathogenicrs121917938GRCh37Chr 2, 166908355: 166908355
254SCN1ANM_006920.4(SCN1A): c.2552G> A (p.Arg851Gln)SNVPathogenicrs121918785GRCh37Chr 2, 166895937: 166895937
255SCN1ANM_006920.4(SCN1A): c.269T> C (p.Phe90Ser)SNVLikely pathogenic, Pathogenicrs121918733GRCh37Chr 2, 166915194: 166915194
256SCN1ANM_006920.4(SCN1A): c.272T> C (p.Ile91Thr)SNVPathogenicrs121918734GRCh37Chr 2, 166915191: 166915191
257SCN1ANM_006920.4(SCN1A): c.2758C> T (p.Arg920Cys)SNVLikely pathogenic, Pathogenicrs121918788GRCh37Chr 2, 166894441: 166894441
258SCN1ANM_006920.4(SCN1A): c.2782C> T (p.His928Tyr)SNVPathogenicrs121918736GRCh37Chr 2, 166894417: 166894417
259SCN1ANM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys)SNVPathogenicrs121918775GRCh37Chr 2, 166894396: 166894396
260SCN1ANM_006920.4(SCN1A): c.2821T> G (p.Trp941Gly)SNVPathogenicrs121918737GRCh37Chr 2, 166894378: 166894378
261SCN1ANM_006920.4(SCN1A): c.3596C> A (p.Thr1199Lys)SNVPathogenicrs121918738GRCh37Chr 2, 166870330: 166870330
262SCN1ANM_006920.4(SCN1A): c.3745A> C (p.Thr1249Pro)SNVPathogenicrs121918739GRCh37Chr 2, 166868720: 166868720
263SCN1ANM_006920.4(SCN1A): c.3827T> C (p.Leu1276Pro)SNVPathogenicrs121918740GRCh37Chr 2, 166868638: 166868638
264SCN1ANM_006920.4(SCN1A): c.4265G> A (p.Gly1422Glu)SNVPathogenicrs121918741GRCh37Chr 2, 166856273: 166856273
265SCN1ANM_006920.4(SCN1A): c.4724G> A (p.Gly1575Glu)SNVPathogenicrs121918742GRCh37Chr 2, 166850751: 166850751
266SCN1ANM_006920.4(SCN1A): c.4909C> T (p.Arg1637Cys)SNVPathogenicrs121918791GRCh37Chr 2, 166848843: 166848843
267SCN1ANM_006920.4(SCN1A): c.4940C> T (p.Thr1647Met)SNVPathogenicrs121917922GRCh37Chr 2, 166848812: 166848812
268SCN1ANM_006920.4(SCN1A): c.5313C> G (p.Ile1771Met)SNVPathogenicrs121918763GRCh37Chr 2, 166848439: 166848439
269SCN1ANM_006920.4(SCN1A): c.5401T> G (p.Trp1801Gly)SNVLikely pathogenicrs121918751GRCh37Chr 2, 166848351: 166848351
270SCN1ANM_006920.4(SCN1A): c.5522T> C (p.Met1841Thr)SNVPathogenicrs121918783GRCh37Chr 2, 166848230: 166848230
271SCN1ANM_006920.4(SCN1A): c.568T> C (p.Trp190Arg)SNVPathogenicrs121918773GRCh37Chr 2, 166911182: 166911182
272SCN1ANM_006920.4(SCN1A): c.777C> A (p.Ser259Arg)SNVPathogenicrs121918735GRCh37Chr 2, 166908416: 166908416
273SCN1ANM_006920.4(SCN1A): c.1029-1G> CSNVPathogenicrs398123579GRCh37Chr 2, 166904279: 166904279
274SCN1ANM_006920.4(SCN1A): c.1162delT (p.Tyr388Ilefs)deletionPathogenicrs398123580GRCh37Chr 2, 166904145: 166904145
275SCN1ANM_006920.4(SCN1A): c.1766A> T (p.Asp589Val)SNVLikely pathogenicrs398123584GRCh37Chr 2, 166900456: 166900456
276SCN1ANM_001165963.1(SCN1A): c.1837C> T (p.Arg613Ter)SNVPathogenicrs398123585GRCh37Chr 2, 166900385: 166900385
277SCN1ANM_001165963.1(SCN1A): c.2576G> A (p.Arg859His)SNVPathogenicrs398123588GRCh37Chr 2, 166895946: 166895946
278SCN1ANM_006920.4(SCN1A): c.3613G> A (p.Glu1205Lys)SNVLikely pathogenicrs398123590GRCh37Chr 2, 166870313: 166870313
279SCN1ANM_006920.4(SCN1A): c.4186C> T (p.Arg1396Ter)SNVPathogenicrs398123593GRCh37Chr 2, 166859047: 166859047
280SCN1ANM_006920.4(SCN1A): c.4251+2T> CSNVPathogenicrs398123595GRCh37Chr 2, 166858980: 166858980
281SCN1ANM_006920.4(SCN1A): c.5108T> C (p.Met1703Thr)SNVLikely pathogenicrs121917949GRCh37Chr 2, 166848644: 166848644
282SCN1ANM_006920.4(SCN1A): c.5506delC (p.Leu1836Serfs)deletionPathogenicrs398123599GRCh37Chr 2, 166848246: 166848246

Copy number variations for Dravet Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11384482163500000169500000TranslocationSCN1Asevere myoclonic epilepsy of infancy
21385742166553915166638395Copy numberSCN1ADravet syndrome
31961555159900000167400000Translocationsevere myoclonic epilepsy of infancy

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

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.2GABRA1, GABRG2
210.2GABRA1, GABRG2
39.9CACNA1A, GABRA1, GABRG2
4
Show member pathways
9.8ATP6V0C, CACNA1A, STXBP1
59.7SCN1A, SCN1B, SCN2A, SCN9A, STXBP1
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
9.5CACNA1A, GABRA1, SCN2A, SCN3A, SCN9A
10
Show member pathways
9.5SCN1A, SCN1B, SCN2A, SCN3A, SCN9A, SLC8A1
11
Show member pathways
9.4CACNA1A, SCN1A, SCN1B, SCN2A, SCN3A, SCN9A

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:190271110.7GABRA1, GABRG2
2axonGO:003042410.5GABRG2, SCN1A, SCN2A, SCN3A
3node of RanvierGO:003326810.5SCN1A, SCN1B, SCN2A
4sodium channel complexGO:003470610.5SCN1A, SCN1B, SCN2A
5intercalated discGO:001470410.3SCN1A, SCN1B, SCN2A, SLC8A1
6cell projectionGO:004299510.2CACNA1A, CLSTN1, SCN9A, SLC8A1
7T-tubuleGO:003031510.1SCN1A, SCN1B, SCN2A, SLC8A1
8voltage-gated sodium channel complexGO:00015189.7SCN1A, SCN1B, SCN2A, SCN3A, SCN9A

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1cellular response to histamineGO:007142010.8GABRA1, GABRG2
2neuronal action potential propagationGO:001922710.8SCN1A, SCN1B
3membrane depolarization during cardiac muscle cell action potentialGO:008601210.8SCN1B, SLC8A1
4response to pyrethroidGO:004668410.7SCN1B, SCN3A
5behavioral response to painGO:004826610.7CACNA1A, SCN9A
6membrane depolarizationGO:005189910.7CACNA1A, SCN1B
7neuron-neuron synaptic transmissionGO:000727010.6CACNA1A, KIF1B
8gamma-aminobutyric acid signaling pathwayGO:000721410.6CACNA1A, GABRA1, GABRG2
9neuronal action potentialGO:001922810.5SCN1A, SCN2A, SCN3A, SCN9A
10regulation of sodium ion transportGO:000202810.5NKAIN3, SCN1B, SLC8A1
11negative regulation of neuron apoptotic processGO:004352410.4CACNA1A, KDM2B, STXBP1
12neuromuscular synaptic transmissionGO:000727410.4CACNA1A, KIF1B, STXBP1
13regulation of postsynaptic membrane potentialGO:006007810.3SCN1A, SCN1B, SCN2A, SCN3A, SCN9A
14membrane depolarization during action potentialGO:008601010.2CACNA1A, SCN1A, SCN2A, SCN3A, SCN9A
15regulation of ion transmembrane transportGO:003476510.2CACNA1A, SCN1A, SCN2A, SCN3A, SCN9A
16synaptic transmission, GABAergicGO:005193210.2GABRA1, GABRG2
17sodium ion transmembrane transportGO:003572510.1SCN1A, SCN1B, SCN2A, SCN3A, SCN9A, SLC8A1
18sodium ion transportGO:00068149.8SCN1A, SCN2A, SCN3A, SCN9A, SLC8A1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular ligand-gated ion channel activityGO:000523010.6GABRA1, GABRG2
2GABA-A receptor activityGO:000489010.6GABRA1, GABRG2
3sodium ion bindingGO:003140210.4SCN1A, SCN3A, SCN9A
4voltage-gated sodium channel activityGO:00052489.7SCN1A, SCN1B, SCN2A, SCN3A, SCN9A

Sources for Dravet Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet