DS
MCID: DRV001
MIFTS: 69

Dravet Syndrome (DS) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Dravet Syndrome

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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

MalaCards: Dravet Syndrome, also known as severe myoclonic epilepsy of infancy, is related to febrile seizures and scn1a-related severe myoclonic epilepsy in infancy. An important gene associated with Dravet Syndrome is SCN1A (sodium channel, voltage-gated, type I, alpha subunit), and among its related pathways are Benzodiazepine Pathway, Pharmacodynamics and GABA receptor activation. The compounds flumazenil and topiramate have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related mouse phenotypes are reproductive system and normal.

Disease Ontology:9 An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.

NINDS:45 Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy.

Wikipedia:66 Severe myoclonic epilepsy of infancy also known as Dravet syndrome is a type of epilepsy with seizures... more...

Description from OMIM:48 607208,612164,615744

Aliases & Classifications for Dravet Syndrome

About this section
Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 23GTR, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
dravet syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

dravet syndrome 9 10 44 45 48 11 46 50
severe myoclonic epilepsy of infancy 44 23 45 50
smei 9 44 50
myoclonic epilepsy, severe, of infancy 44
severe myoclonus epilepsy of infancy 50
severe myoclonic epilepsy in infancy 9
infantile severe myoclonic epilepsy 63
sme 44
ds 50


External Ids:

Disease Ontology9 DOID:0060171
ICD10 via Orphanet27 G40.4

Related Diseases for Dravet Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1febrile seizures30.7GABRG2, SCN1A, SCN1B
2scn1a-related severe myoclonic epilepsy in infancy10.5
3myoclonic epilepsy of infancy10.5
4neuronitis10.4
5hemiplegia10.3
6hyperinsulinism10.3
7status epilepticus10.2
8hepatitis10.2
9gabrg2-related dravet syndrome10.2
10scn9a-related dravet syndrome10.2
11dravet syndrome, modifier of10.2
12epilepsy, generalized, with febrile seizures plus, type 310.2
13scn1a-related seizure disorders10.1SCN1A
14epilepsy syndrome10.1SCN2A
15lennox-gastaut syndrome10.1SCN1A
16generalized epilepsy with febrile seizures plus10.1
17infantile epileptic encephalopathy10.1
18myoclonic astatic epilepsy10.1
19mental retardation10.1
20epileptic encephalopathy, early infantile, 110.1
21epilepsy, generalized, with febrile seizures plus, type 210.1
22focal epilepsy10.1SCN1A, GABRG2
23convulsions benign familial neonatal dominant form10.1GABRG2, SCN1B, SCN1A
24idiopathic generalized epilepsy10.1SCN1A, GABRG2
25frontal lobe epilepsy10.1SCN1A, SCN1B, GABRG2
26ohtahara syndrome10.1STXBP1, PCDH19
27epilepsy with generalized tonic-clonic seizures10.1SCN8A, SCN3A
28hemiplegic migraine10.1CACNA1A, SCN1A
29pain disorder10.0SCN8A, SCN9A, SCN3A
30erythromelalgia10.0SCN8A, SCN9A, SCN3A
31long qt syndrome10.0SCN8A, SCN3A
32familial hemiplegic migraine10.0CACNA1A, SCN1A
33juvenile absence epilepsy10.0GABRA1, GABRG2
34juvenile myoclonic epilepsy10.0SCN1A, GABRG2, GABRA1
35brugada syndrome10.0SCN1B, SCN8A
36neuropathy10.0CACNA1A, SCN9A, SCN8A
37childhood absence epilepsy10.0GABRA1, GABRG2
38early myoclonic encephalopathy10.0STXBP1, GABRA1

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



Diseases related to dravet syndrome

Symptoms for Dravet Syndrome

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

607208

Clinical features from OMIM:

607208,612164,615744

Drugs & Therapeutics for Dravet Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Dravet Syndrome

Drug clinical trials:

Search ClinicalTrials for Dravet Syndrome

Search NIH Clinical Center for Dravet Syndrome

Search CenterWatch for Dravet Syndrome

Genetic Tests for Dravet Syndrome

About this section
Sources:
23GTR
See all sources

Genetic tests related to Dravet Syndrome:

id Genetic test Affiliating Genes
1 Severe Myoclonic Epilepsy in Infancy23

Anatomical Context for Dravet Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Dravet Syndrome:

34
Brain, Testes, Heart

Animal Models for Dravet Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Dravet Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.8GABRA1, GABRG2, GABRD, CACNA1A, SCN1A, SCN8A
2MP:00028737.4SCN1A, SCN1B, SCN9A, SCN3A, CACNA1A, GABRG2
3MP:00036316.4SCN8A, SCN1A, SCN1B, SCN9A, STXBP1, PCDH10
4MP:00053786.3SCN8A, SCN1A, SCN1B, SCN3A, CHD2, PCDH10
5MP:00053865.9GABRA1, SCN8A, SCN1A, SCN1B, SCN9A, SCN3A
6MP:00107685.4SCN3A, SCN9A, SCN1B, SCN1A, SCN8A, CHD2

Publications for Dravet Syndrome

About this section
Sources:
53PubMed
See all sources

Articles related to Dravet Syndrome:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
Lori O'Driscoll founder of the Dravet Syndrome Foundation. (24417630)
2014
2
The multiple faces of Dravet syndrome. (24328832)
2014
3
Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. (24328833)
2014
4
Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome. (24412860)
2014
5
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. (23922229)
2013
6
Cognitive and social impairment in mouse models mirrors dravet syndrome. (23646018)
2013
7
An electroclinical study of absence seizures in Dravet syndrome. (22824327)
2013
8
Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome. (23663038)
2013
9
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. (23103419)
2013
10
QT and P wave dispersion and heart rate variability in patients with Dravet syndrome. (23065439)
2013
11
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. (23762420)
2013
12
Bromide in patients with SCN1A-mutations manifesting as Dravet syndrome. (22430156)
2012
13
Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations. (22150645)
2012
14
Successful use of fenfluramine as an add-on treatment for Dravet syndrome. (22554283)
2012
15
SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome. (22341965)
2012
16
On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation. (22206733)
2012
17
Mouse with Na(v)1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment. (22986304)
2012
18
Additional information regarding "Dravet syndrome: inroads into understanding epileptic encephalopathies". (22226577)
2012
19
Acute encephalopathy in children with Dravet syndrome. (22092154)
2012
20
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. (22780858)
2012
21
Early clinical features in Dravet syndrome patients with and without SCN1A mutations. (22071555)
2012
22
Diagnosis and long-term course of Dravet syndrome. (22704920)
2012
23
Generalized periodic epileptiform discharges in a child with Dravet syndrome. (21335542)
2011
24
Dravet syndrome: inroads into understanding epileptic encephalopathies. (21163495)
2011
25
Early development in Dravet syndrome; visual function impairment precedes cognitive decline. (21109403)
2011
26
Comorbidities and predictors of health-related quality of life in Dravet syndrome. (21668444)
2011
27
Dravet syndrome with an exceptionally good seizure outcome in two adolescents. (21865128)
2011
28
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. (21269283)
2011
29
Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. (21463290)
2011
30
Occlusive patch therapy for reduction of seizures in Dravet syndrome. (21127079)
2011
31
Perceptions of fever and fever management practices in parents of children with Dravet syndrome. (21703932)
2011
32
Vaccination and the onset of dravet syndrome. (21852883)
2011
33
Acute encephalopathy in a patient with Dravet syndrome. (21647847)
2011
34
When should clinicians order genetic testing for Dravet syndrome? (22000312)
2011
35
Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. (21371021)
2011
36
Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome. (21844054)
2011
37
Mortality in Dravet syndrome: search for risk factors in Japanese patients. (21463280)
2011
38
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. (22028529)
2011
39
Neuroimaging and neuropathology of Dravet syndrome. (21463276)
2011
40
Borderline Dravet syndrome: a useful diagnostic category? (21463273)
2011
41
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. (20431604)
2010
42
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. (20447868)
2010
43
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. (19783390)
2009
44
A functional null mutation of SCN1B in a patient with Dravet syndrome. (19710327)
2009
45
Dravet syndrome. (19737414)
2009
46
Parental SCN1A mutation mosaicism in familial Dravet syndrome. (19673951)
2009
47
Dravet syndrome: from electroclinical characteristics to molecular biology. (19702726)
2009
48
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? (19203856)
2009
49
Acute hepatic injury in a child with Dravet syndrome: no protective effect of stiripentol. (18400523)
2008
50
Dravet syndrome: a study of 53 patients. (16893627)
2006

Variations for Dravet Syndrome

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65 (show all 152)
id Symbol AA change Variation ID SNP ID
1SCN1Ap.Arg1648HisVAR_010111rs121918622
2SCN1Ap.Leu986PheVAR_014268rs121918625
3SCN1Ap.Glu78AspVAR_029660rs121917933
4SCN1Ap.Arg101GlnVAR_029661rs121917918
5SCN1Ap.Ser103GlyVAR_029662rs121918743
6SCN1Ap.Thr112IleVAR_029663rs121918745
7SCN1Ap.Gly177GluVAR_029664rs121918770
8SCN1Ap.Trp190ArgVAR_029665rs121918773
9SCN1Ap.Ile227SerVAR_029666rs121917937
10SCN1Ap.Ile252AsnVAR_029667rs121918780
11SCN1Ap.Gly265TrpVAR_029668rs121918749
12SCN1Ap.Trp280ArgVAR_029669rs121917938
13SCN1Ap.Thr297IleVAR_029670rs121918771
14SCN1Ap.Gly343AspVAR_029671rs121918753
15SCN1Ap.Arg393HisVAR_029672rs121917927
16SCN1Ap.Tyr426AsnVAR_029673rs121917940
17SCN1Ap.Thr808SerVAR_029676rs121918758
18SCN1Ap.Phe902CysVAR_029677rs121918787
19SCN1Ap.Arg931CysVAR_029678rs121918788
20SCN1Ap.Met934IleVAR_029679rs121918774
21SCN1Ap.His939GlnVAR_029680rs121918795
22SCN1Ap.Val944AlaVAR_029681rs121917969
23SCN1Ap.Arg946CysVAR_029682rs121918775
24SCN1Ap.Arg946HisVAR_029683rs121917971
25SCN1Ap.Cys959ArgVAR_029684rs121918796
26SCN1Ap.Met960ValVAR_029685rs121918750
27SCN1Ap.Gly979ArgVAR_029686rs121918754
28SCN1Ap.Val983AlaVAR_029687rs121918756
29SCN1Ap.Asn985IleVAR_029688rs121918747
30SCN1Ap.Asn1011IleVAR_029689rs121918759
31SCN1Ap.Ser1231ArgVAR_029692rs121918746
32SCN1Ap.Gly1233ArgVAR_029693rs121917911
33SCN1Ap.Phe1263LeuVAR_029694rs121918752
34SCN1Ap.Leu1265ProVAR_029695rs121918794
35SCN1Ap.Leu1355ProVAR_029697rs121918776
36SCN1Ap.Ala1326ProVAR_029698rs121918803
37SCN1Ap.Val1390MetVAR_029699rs121917986
38SCN1Ap.Trp1434ArgVAR_029701rs121918789
39SCN1Ap.Gln1450ArgVAR_029702rs121918790
40SCN1Ap.Leu1461IleVAR_029703rs121918772
41SCN1Ap.Phe1463SerVAR_029704rs121917946
42SCN1Ap.Val1611PheVAR_029706rs121918630
43SCN1Ap.Pro1632SerVAR_029707rs121918755
44SCN1Ap.Arg1648CysVAR_029708rs121918791
45SCN1Ap.Phe1661SerVAR_029710rs121918797
46SCN1Ap.Pro1668AlaVAR_029711rs121917948
47SCN1Ap.Gly1674ArgVAR_029712rs121918792
48SCN1Ap.Tyr1694CysVAR_029713rs121918777
49SCN1Ap.Ala1685AspVAR_029714rs121918744
50SCN1Ap.Phe1692SerVAR_029716rs121918778
51SCN1Ap.Thr1709IleVAR_029717rs121918629
52SCN1Ap.Gly1749GluVAR_029718rs121918798
53SCN1Ap.Met1780ThrVAR_029720rs121917952
54SCN1Ap.Tyr1781CysVAR_029721rs121918779
55SCN1Ap.Phe1808LeuVAR_029723rs121918757
56SCN1Ap.Trp1812GlyVAR_029724rs121918751
57SCN1Ap.Phe1831SerVAR_029726rs121918748
58SCN1Ap.Glu1881AspVAR_029728rs121918804
59SCN1Ap.Thr1909IleVAR_029729rs121918793
60SCN1Ap.Tyr84CysVAR_043349rs121917964
61SCN1Ap.Arg118SerVAR_043350rs121917959
62SCN1Ap.Thr226MetVAR_043351rs121917984
63SCN1Ap.Ala239ThrVAR_043352rs121917985
64SCN1Ap.Asp366GluVAR_043353rs121917958
65SCN1Ap.Arg393CysVAR_043355rs121917929
66SCN1Ap.Leu1207ProVAR_043360rs121917963
67SCN1Ap.Glu1238AspVAR_043361rs121917973
68SCN1Ap.Val1335MetVAR_043362rs121917960
69SCN1Ap.Trp1358SerVAR_043363rs121917961
70SCN1Ap.Val1366IleVAR_043364rs121918805
71SCN1Ap.Tyr1462CysVAR_043365rs121917962
72SCN1Ap.Arg946SerVAR_057995rs121918775
73SCN1Ap.Phe63LeuVAR_064230rs121917907
74SCN1Ap.Phe90SerVAR_064231rs121918733
75SCN1Ap.Ile91ThrVAR_064232rs121918734
76SCN1Ap.Arg101TrpVAR_064233rs121917965
77SCN1Ap.Ile124AsnVAR_064234rs121918761
78SCN1Ap.Ile171LysVAR_064235rs121918766
79SCN1Ap.Ala175ThrVAR_064236rs121918767
80SCN1Ap.Asn191TyrVAR_064237rs121918762
81SCN1Ap.Asp194AsnVAR_064238rs121917935
82SCN1Ap.Ala239ValVAR_064239rs121917909
83SCN1Ap.Ser259ArgVAR_064240rs121918735
84SCN1Ap.Val406PheVAR_064242rs121918768
85SCN1Ap.Tyr413AsnVAR_064243rs121917967
86SCN1Ap.Arg604HisVAR_064244rs121918769
87SCN1Ap.Leu783ProVAR_064245rs121917968
88SCN1Ap.Arg862GlnVAR_064246rs121918785
89SCN1Ap.Thr875LysVAR_064247rs121918623
90SCN1Ap.His939TyrVAR_064248rs121918736
91SCN1Ap.Val944GluVAR_064249
92SCN1Ap.Phe945LeuVAR_064250rs121917970
93SCN1Ap.Gly950GluVAR_064251rs121917972
94SCN1Ap.Trp952GlyVAR_064252rs121918737
95SCN1Ap.Glu954LysVAR_064253rs121918786
96SCN1Ap.Thr1210LysVAR_064254rs121918738
97SCN1Ap.Thr1260ProVAR_064255rs121918739
98SCN1Ap.Leu1287ProVAR_064256rs121918740
99SCN1Ap.Glu1308AspVAR_064257rs121917910
100SCN1Ap.Asn1367LysVAR_064259rs121918760
101SCN1Ap.Cys1396GlyVAR_064260rs121917987
102SCN1Ap.Gly1433GluVAR_064261rs121918741
103SCN1Ap.Gly1433ArgVAR_064262rs121917908
104SCN1Ap.Gln1450LysVAR_064263rs121918806
105SCN1Ap.Leu1514SerVAR_064264rs121918764
106SCN1Ap.Ile1545ValVAR_064265rs121917975
107SCN1Ap.Gly1586GluVAR_064266rs121918742
108SCN1Ap.Val1612IleVAR_064267rs121918808
109SCN1Ap.Arg1645GlnVAR_064269rs121917976
110SCN1Ap.Thr1658MetVAR_064270rs121917922
111SCN1Ap.Met1664LysVAR_064271rs121918765
112SCN1Ap.Trp1726ArgVAR_064272rs121917979
113SCN1Ap.Cys1756GlyVAR_064273rs121918809
114SCN1Ap.Ile1782MetVAR_064274rs121918763
115SCN1Ap.Ala1783ThrVAR_064275rs121917980
116SCN1Ap.Thr162ProVAR_064296rs121917934
117SCN1Ap.Thr217LysVAR_064297rs121917936
118SCN1Ap.Arg322IleVAR_064298rs121917928
119SCN1Ap.Arg356GlyVAR_064299rs121917920
120SCN1Ap.Pro358ThrVAR_064300rs121917923
121SCN1Ap.Phe383LeuVAR_064301rs121917939
122SCN1Ap.Arg393SerVAR_064302rs121917929
123SCN1Ap.Phe403LeuVAR_064303rs121917966
124SCN1Ap.Thr812ArgVAR_064304rs121917941
125SCN1Ap.Glu846LysVAR_064305rs121917942
126SCN1Ap.Leu942ProVAR_064307rs121917943
127SCN1Ap.Trp957LeuVAR_064308rs121917917
128SCN1Ap.Ser1231ThrVAR_064310rs121918800
129SCN1Ap.Arg1245GlnVAR_064311rs121917912
130SCN1Ap.Asn1414TyrVAR_064312rs121917925
131SCN1Ap.Tyr1422CysVAR_064313rs121917913
132SCN1Ap.Leu1426ArgVAR_064314rs121917944
133SCN1Ap.Pro1451LeuVAR_064315rs121917945
134SCN1Ap.Gly1470TrpVAR_064316rs121917924
135SCN1Ap.Leu1475SerVAR_064317rs121917947
136SCN1Ap.Cys1588ArgVAR_064319rs121917919
137SCN1Ap.Asp1608TyrVAR_064320rs121917915
138SCN1Ap.Val1630MetVAR_064321rs121917914
139SCN1Ap.Thr1658ArgVAR_064323rs121917922
140SCN1Ap.Ser1713AsnVAR_064325rs121918816
141SCN1Ap.Met1714ArgVAR_064326rs121917949
142SCN1Ap.Cys1716ArgVAR_064327rs121917926
143SCN1Ap.Gly1762GluVAR_064328rs121917950
144SCN1Ap.Ser1773PheVAR_064329rs121917951
145SCN1Ap.Glu1787LysVAR_064330rs121917916
146SCN1Ap.Ala1783ValVAR_064345rs121917921
147SCN1Ap.Asp79HisVAR_064346rs121917982
148SCN1Ap.Thr199ArgVAR_064347rs121917983
149SCN1Ap.Ala1441ProVAR_064348rs121917974
150SCN1Ap.Phe1707ValVAR_064349rs121917977
151SCN1Ap.Thr1721ArgVAR_064350rs121917978
152SCN1Ap.Ile1922ThrVAR_064351rs121917981

Clinvar genetic disease variations for Dravet Syndrome:

1 (show all 14)
id Gene Name 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_006920.4(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_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu)single nucleotide variantPathogenicrs397514458GRCh37Chr 2, 166848779: 166848779
12SCN1ANM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly)single nucleotide variantPathogenicrs397514459GRCh37Chr 2, 166895938: 166895938
13SCN1ANM_006920.4(SCN1A): c.302G> A (p.Arg101Gln)single nucleotide variantPathogenicrs121917918GRCh37Chr 2, 166915161: 166915161
14SCN1ANM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys)single nucleotide variantPathogenicrs121918775GRCh37Chr 2, 166894396: 166894396

Expression for genes affiliated with Dravet Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Dravet Syndrome

Search GEO for disease gene expression data for Dravet Syndrome.

Pathways for genes affiliated with Dravet Syndrome

About this section
Sources:
51PathCards, 52PharmGKB, 56Reactome, 13EMD Millipore, 55R&D Systems, 62Tocris Bioscience, 31KEGG, 54QIAGEN
See all sources

Pathways related to Dravet Syndrome according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9GABRG2, GABRA1
2
Show member pathways
9.9GABRA1, GABRG2
3
Show member pathways
9.9GABRA1, GABRG2
4
Show member pathways
9.5GABRG2, GABRA1, GABRD
5
Show member pathways
9.5GABRD, GABRA1, GABRG2
68.7SCN2A, SCN1A, CACNA1A, SCN9A
7
Show member pathways
8.7STXBP1, GABRG2, CACNA1A, GABRA1
88.7CACNA1A, GABRG2, GABRD, GABRA1
9
Show member pathways
8.7CACNA1A, GABRD, GABRG2, GABRA1
10
Show member pathways
8.4SCN1B, SCN9A, SCN3A, SCN1A, SCN8A
11
Show member pathways
8.4SCN1A, GABRA1, GABRG2, GABRD, CACNA1A
12
Show member pathways
8.4SCN1A, SCN3A, SCN9A, SCN2A, SCN8A
13
Show member pathways
8.1SCN1A, SCN9A, SCN8A, SCN2A, SCN3A, SCN1B
148.1SCN2A, SCN9A, SCN1B, SCN1A, SCN3A, SCN8A
15
Show member pathways
7.6SCN3A, SCN8A, SCN1A, SCN1B, SCN9A, CACNA1A
16
Show member pathways
7.6SCN8A, SCN1A, SCN1B, SCN3A, CACNA1A, SCN9A

Compounds for genes affiliated with Dravet Syndrome

About this section
Sources:
30IUPHAR, 46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB, 62Tocris Bioscience
See all sources

Compounds related to Dravet Syndrome according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1flumazenil30 46 1212.0GABRA1, GABRG2
2topiramate46 52 25 1213.0SCN1A, SCN2A, GABRA1
3(+)-bicuculline629.9GABRD, GABRG2, GABRA1
4(-)-bicuculline methochloride629.9GABRD, GABRG2, GABRA1
5(-)-bicuculline methiodide629.9GABRD, GABRG2, GABRA1
6sr 95531 hydrobromide629.9GABRD, GABRG2, GABRA1
7estazolam46 1210.9GABRD, GABRG2, GABRA1
8quazepam46 1210.9GABRD, GABRG2, GABRA1
9bromazepam46 1210.8GABRA1, GABRG2, GABRD
10flurazepam46 1210.8GABRD, GABRG2, GABRA1
11lorazepam46 52 1211.8GABRD, GABRG2, GABRA1
12oxazepam52 1210.8GABRD, GABRG2, GABRA1
13chlordiazepoxide46 1210.8GABRD, GABRG2, GABRA1
14thip309.8GABRA1, GABRD
15clonazepam46 1210.8GABRD, GABRG2, GABRA1
16tbps46 3010.8GABRD, GABRG2, GABRA1
17phenytoin46 52 30 1212.8SCN1A, SCN2A, GABRA1
18muscimol46 62 3011.8GABRD, GABRG2, GABRA1
19triazolam46 1210.8GABRA1, GABRG2, GABRD
20carbamazepine46 52 1211.8GABRA1, SCN2A, SCN1A
21clobazam46 52 1211.8GABRD, GABRG2, GABRA1
22alprazolam46 1210.7GABRD, GABRG2, GABRA1
23picrotoxin46 30 1211.7GABRA1, GABRD
24Gamma-Aminobutyric acid259.7GABRD, GABRG2, GABRA1
25midazolam46 52 1211.7GABRA1, GABRG2, GABRD
26diazepam46 30 52 1212.7GABRA1, GABRG2, GABRD
27nitrazepam46 1210.6SCN1A, GABRD, GABRG2, GABRA1
28lamotrigine46 52 1211.6SCN2A, SCN1A
29chlorine46 2510.4GABRA1, GABRG2, GABRD
30bc-iii309.2SCN8A, SCN1A, SCN2A, SCN3A
31atx-ii309.2SCN8A, SCN1A, SCN2A, SCN3A
32aft-ii309.2SCN3A, SCN2A, SCN1A, SCN8A
33zonisamide46 52 1211.2SCN1A, SCN1B, SCN9A, SCN2A, SCN3A
34valproic acid46 52 25 1212.0SCN2A, CACNA1A, GABRA1
35saxitoxin308.8SCN8A, SCN1A, SCN9A, SCN2A, SCN3A
36batrachotoxin308.8SCN8A, SCN1A, SCN9A, SCN2A, SCN3A
37potassium46 25 1210.6SCN8A, SCN1A, SCN1B, CACNA1A, GABRG2
38veratridine46 62 3010.6SCN3A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A
39tetrodotoxin citrate628.6SCN9A, SCN1B, SCN1A, SCN8A, SCN2A, SCN3A
40qx 314 chloride628.6SCN3A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A
41phrixotoxin 3628.6SCN8A, SCN3A, SCN2A, SCN9A, SCN1B, SCN1A
42tetrodotoxin46 62 3010.6SCN8A, SCN1A, SCN1B, SCN9A, SCN2A, SCN3A
43sodium46 258.5SCN8A, SCN1A, SCN1B, SCN9A, SCN2A, SCN3A

GO Terms for genes affiliated with Dravet Syndrome

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Dravet Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:0303159.8SCN1B, SCN1A, SCN2A
2intercalated discGO:0147049.7SCN1A, SCN1B, SCN2A
3axon initial segmentGO:0431949.5SCN1A, SCN8A
4chloride channel complexGO:0347079.5GABRD, GABRG2, GABRA1
5node of RanvierGO:0332689.2SCN8A, SCN1A, SCN1B, SCN2A
6postsynaptic membraneGO:0452119.2GABRA1, GABRG2, GABRD
7neuronal cell bodyGO:0430258.8CACNA1A, SCN1A, SCN8A
8voltage-gated sodium channel complexGO:0015188.3SCN3A, SCN8A, SCN1A, SCN1B, SCN9A, SCN2A

Biological processes related to Dravet Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1neuronal action potential propagationGO:01922710.1SCN1A, SCN1B
2synaptic transmission, GABAergicGO:05193210.1GABRA1, GABRG2
3neuronal action potentialGO:0192289.9SCN1A, SCN9A
4transportGO:0068109.5GABRD, GABRG2, GABRA1
5behavioral response to painGO:0482669.4CACNA1A, SCN9A
6neuromuscular synaptic transmissionGO:0072749.4CACNA1A, STXBP1
7gamma-aminobutyric acid signaling pathwayGO:0072149.3CACNA1A, GABRG2, GABRA1
8membrane depolarizationGO:0518999.3SCN1B, CACNA1A
9myelinationGO:0425529.3SCN8A, SCN2A
10adult walking behaviorGO:0076289.0SCN8A, CACNA1A, SCN1A
11sodium ion transportGO:0068148.7SCN8A, SCN1A, SCN9A, SCN2A, SCN3A
12sodium ion transmembrane transportGO:0357258.4SCN3A, SCN2A, SCN8A, SCN1A, SCN1B, SCN9A
13synaptic transmissionGO:0072688.3SCN1B, STXBP1, CACNA1A, GABRD, GABRG2, GABRA1

Molecular functions related to Dravet Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor activityGO:0048909.5GABRA1, GABRD, GABRG2
2extracellular ligand-gated ion channel activityGO:0052309.4GABRD, GABRG2, GABRA1
3syntaxin bindingGO:0199059.3CACNA1A, STXBP1
4chloride channel activityGO:0052549.2GABRD, GABRG2, GABRA1
5voltage-gated sodium channel activityGO:0052488.2SCN9A, SCN8A, SCN1A, SCN1B, SCN2A, SCN3A

Products for genes affiliated with Dravet Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dravet Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet