DS
MCID: DRV001
MIFTS: 70

Dravet Syndrome (DS) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Dravet Syndrome

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NIH Rare Diseases:42 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 based summary: Dravet Syndrome, also known as severe myoclonic epilepsy of infancy, is related to febrile seizures and scn1a-related seizure disorders, and has symptoms including An important gene associated with Dravet Syndrome is SCN1A (sodium channel, voltage-gated, type I, alpha subunit), and among its related pathways are GABA receptor activation and Ligand-gated ion channel transport. The compounds topiramate and flumazenil have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related mouse phenotypes are no phenotypic analysis and reproductive system.

Disease Ontology:8 An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.

NINDS:43 Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy.

Wikipedia:65 Severe myoclonic epilepsy of infancy also known as Dravet syndrome is a type of epilepsy with seizures... more...

Descriptions from OMIM:46 607208,612164,615744

Aliases & Classifications for Dravet Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 22GTR, 26ICD10 via Orphanet
See all sources

Dravet Syndrome, Aliases & Descriptions:

Name: Dravet Syndrome 8 9 42 43 46 10 44 48
Severe Myoclonic Epilepsy of Infancy 42 22 43 48 62
Smei 8 42 48
Severe Myoclonic Epilepsy in Infancy 8 62
Myoclonic Epilepsy, Severe, of Infancy 42
 
Severe Myoclonus Epilepsy of Infancy 48
Infantile Severe Myoclonic Epilepsy 62
Sme 42
Ds 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
dravet syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

Disease Ontology8 DOID:0060171
ICD10 via Orphanet26 G40.4

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/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1febrile seizures31.0GABRG2, SCN1B, SCN1A
2scn1a-related seizure disorders10.5SCN1A
3scn1a-related severe myoclonic epilepsy in infancy10.5
4neuronitis10.5
5myoclonic epilepsy of infancy10.5
6epilepsy syndrome10.5SCN2A
7lennox-gastaut syndrome10.5SCN1A
8hemiplegia10.3
9status epilepticus10.3
10hyperinsulinism10.3
11idiopathic generalized epilepsy10.3GABRG2, SCN1A
12convulsions benign familial neonatal dominant form10.3GABRG2, SCN1B, SCN1A
13frontal lobe epilepsy10.3SCN1A, SCN1B, GABRG2
14epilepsy with generalized tonic-clonic seizures10.3SCN8A, SCN3A
15focal epilepsy10.3GABRG2, SCN1A
16hemiplegic migraine10.3SCN1A, CACNA1A
17ohtahara syndrome10.3STXBP1, PCDH19
18hepatitis10.2
19gabrg2-related dravet syndrome10.2
20scn9a-related dravet syndrome10.2
21dravet syndrome, modifier of10.2
22epilepsy, generalized, with febrile seizures plus, type 110.2
23pain disorder10.2SCN8A, SCN3A, SCN9A
24erythromelalgia10.2SCN9A, SCN3A, SCN8A
25long qt syndrome10.1SCN8A, SCN3A
26familial hemiplegic migraine10.1SCN1A, CACNA1A
27west syndrome10.1
28infantile epileptic encephalopathy10.1
29generalized epilepsy with febrile seizures plus10.1
30myoclonic astatic epilepsy10.1
31mental retardation10.1
32epilepsy, generalized, with febrile seizures plus, type 210.1
33neuropathy10.1SCN9A, CACNA1A, SCN8A
34juvenile absence epilepsy10.1GABRA1, GABRG2
35juvenile myoclonic epilepsy10.0GABRG2, SCN1A, GABRA1
36brugada syndrome10.0SCN1B, 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

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Symptoms by clinical synopsis from OMIM:

607208

Clinical features from OMIM:

607208,612164,615744

HPO human phenotypes related to Dravet Syndrome:

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

Drugs & Therapeutics for Dravet Syndrome

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Drug clinical trials:

Search ClinicalTrials for Dravet Syndrome

Search NIH Clinical Center for Dravet Syndrome

Genetic Tests for Dravet Syndrome

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Genetic tests related to Dravet Syndrome:

id Genetic test Affiliating Genes
1 Severe Myoclonic Epilepsy in Infancy22

Anatomical Context for Dravet Syndrome

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MalaCards organs/tissues related to Dravet Syndrome:

32
Brain, Testes, Heart

Animal Models for Dravet Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Dravet Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.2SLC5A2, GABRA1, CACNA1A, SCN3A, SCN1B
2MP:00053897.5SCN8A, SCN1A, CACNA1A, GABRD, GABRG2, GABRA1
3MP:00028737.5SCN1A, SCN1B, SCN9A, SCN3A, CACNA1A, GABRG2
4MP:00036316.4SCN8A, SCN1A, SCN1B, SCN9A, STXBP1, PCDH10
5MP:00053786.1SCN3A, SCN1B, SCN1A, SCN8A, CHD2, PCDH10
6MP:00053865.7SLC5A2, SCN8A, SCN1A, SCN1B, SCN9A, SCN3A
7MP:00107685.4SCN3A, SCN9A, SCN1B, SCN1A, SCN8A, CHD2

Publications for Dravet Syndrome

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Articles related to Dravet Syndrome:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
In response to terminology and prognosis of Dravet syndrome. (24924645)
2014
2
Lori O'Driscoll founder of the Dravet Syndrome Foundation. (24417630)
2014
3
Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome. (25281316)
2014
4
The multiple faces of Dravet syndrome. (24328832)
2014
5
Brain morphometry of Dravet syndrome. (25048308)
2014
6
Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. (24328833)
2014
7
Seizure Reduction with Fluoxetine in Dravet Syndrome. (24955329)
2014
8
Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome. (25024183)
2014
9
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. (24747835)
2014
10
Ictal ontogeny in Dravet syndrome. (25046982)
2014
11
Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome. (24412860)
2014
12
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. (23922229)
2013
13
Cognitive and social impairment in mouse models mirrors dravet syndrome. (23646018)
2013
14
An electroclinical study of absence seizures in Dravet syndrome. (22824327)
2013
15
Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome. (23663038)
2013
16
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. (23103419)
2013
17
QT and P wave dispersion and heart rate variability in patients with Dravet syndrome. (23065439)
2013
18
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. (23762420)
2013
19
Bromide in patients with SCN1A-mutations manifesting as Dravet syndrome. (22430156)
2012
20
Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations. (22150645)
2012
21
Successful use of fenfluramine as an add-on treatment for Dravet syndrome. (22554283)
2012
22
SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome. (22341965)
2012
23
On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation. (22206733)
2012
24
Mouse with Na(v)1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment. (22986304)
2012
25
Additional information regarding "Dravet syndrome: inroads into understanding epileptic encephalopathies". (22226577)
2012
26
Acute encephalopathy in children with Dravet syndrome. (22092154)
2012
27
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. (22780858)
2012
28
Generalized periodic epileptiform discharges in a child with Dravet syndrome. (21335542)
2011
29
Dravet syndrome: inroads into understanding epileptic encephalopathies. (21163495)
2011
30
Early development in Dravet syndrome; visual function impairment precedes cognitive decline. (21109403)
2011
31
Comorbidities and predictors of health-related quality of life in Dravet syndrome. (21668444)
2011
32
Dravet syndrome with an exceptionally good seizure outcome in two adolescents. (21865128)
2011
33
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. (21269283)
2011
34
Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. (21463290)
2011
35
Occlusive patch therapy for reduction of seizures in Dravet syndrome. (21127079)
2011
36
Perceptions of fever and fever management practices in parents of children with Dravet syndrome. (21703932)
2011
37
Vaccination and the onset of dravet syndrome. (21852883)
2011
38
Acute encephalopathy in a patient with Dravet syndrome. (21647847)
2011
39
When should clinicians order genetic testing for Dravet syndrome? (22000312)
2011
40
Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. (21371021)
2011
41
Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome. (21844054)
2011
42
Mortality in Dravet syndrome: search for risk factors in Japanese patients. (21463280)
2011
43
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. (22028529)
2011
44
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. (20431604)
2010
45
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. (19783390)
2009
46
A functional null mutation of SCN1B in a patient with Dravet syndrome. (19710327)
2009
47
Dravet syndrome. (19737414)
2009
48
Parental SCN1A mutation mosaicism in familial Dravet syndrome. (19673951)
2009
49
Dravet syndrome: from electroclinical characteristics to molecular biology. (19702726)
2009
50
Dravet syndrome: a study of 53 patients. (16893627)
2006

Variations for Dravet Syndrome

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

64 (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:

6 (show all 24)
id Gene Name Type Significance SNP ID Assembly Location
1GABRA1NM_000806.5(GABRA1): c.751G> A (p.Gly251Ser)single nucleotide variantPathogenicGRCh38Chr 5, 161890945: 161890945
2GABRA1NM_000806.5(GABRA1): c.335G> A (p.Arg112Gln)single nucleotide variantPathogenicGRCh38Chr 5, 161873196: 161873196
3GABRA1NM_000806.5(GABRA1): c.917A> C (p.Lys306Thr)single nucleotide variantPathogenicGRCh38Chr 5, 161895726: 161895726
4STXBP1NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys)single nucleotide variantPathogenicGRCh37Chr 9, 130430411: 130430411
5NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His)single nucleotide variantPathogenicrs121918622GRCh37Chr 2, 166848842: 166848842
6SCN1ASCN1A, 2-BP DEL, 657AGdeletionPathogenic
7SCN1ANM_006920.4(SCN1A): c.664C> T (p.Arg222Ter)single nucleotide variantPathogenicrs121918624GRCh37Chr 2, 166909392: 166909392
8SCN1ANM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe)single nucleotide variantPathogenicrs121918625GRCh37Chr 2, 166893031: 166893031
9NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile)single nucleotide variantPathogenicrs121918629GRCh37Chr 2, 166848659: 166848659
10NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe)single nucleotide variantPathogenicrs121918630GRCh37Chr 2, 166850677: 166850677
11SCN1ASCN1A, 1-BP DEL, 2528GdeletionPathogenic
12SCN1ASCN1A, DEL EX21-26deletionPathogenic
13SCN1ASCN1A, 6.5-KB DELdeletionPathogenic
14SCN1ASCN1A, 1-BP DEL, 3608AdeletionPathogenic
15NM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu)single nucleotide variantPathogenicrs397514458GRCh37Chr 2, 166848779: 166848779
16SCN1ANM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly)single nucleotide variantPathogenicrs397514459GRCh37Chr 2, 166895938: 166895938
17STXBP1NM_003165.3(STXBP1): c.1631G> A (p.Gly544Asp)single nucleotide variantPathogenicrs121918317GRCh37Chr 9, 130444768: 130444768
18STXBP1NM_003165.3(STXBP1): c.539G> A (p.Cys180Tyr)single nucleotide variantPathogenicrs121918318GRCh37Chr 9, 130425593: 130425593
19STXBP1NM_003165.3(STXBP1): c.1328T> G (p.Met443Arg)single nucleotide variantPathogenicrs121918319GRCh37Chr 9, 130439001: 130439001
20STXBP1NM_003165.3(STXBP1): c.251T> A (p.Val84Asp)single nucleotide variantPathogenicrs121918320GRCh37Chr 9, 130422313: 130422313
21STXBP1NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter)single nucleotide variantPathogenicrs121918321GRCh37Chr 9, 130438134: 130438134
22STXBP1NM_003165.3(STXBP1): c.169+1G> Asingle nucleotide variantPathogenicGRCh37Chr 9, 130416076: 130416076
23SCN1ANM_006920.4(SCN1A): c.302G> A (p.Arg101Gln)single nucleotide variantPathogenicrs121917918GRCh37Chr 2, 166915161: 166915161
24SCN1ANM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys)single nucleotide variantPathogenicrs121918775GRCh37Chr 2, 166894396: 166894396

Expression for genes affiliated with Dravet Syndrome

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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

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Pathways related to Dravet Syndrome according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9GABRA1, GABRG2
2
Show member pathways
9.9GABRA1, GABRG2
3
Show member pathways
9.9GABRG2, GABRA1
4
Show member pathways
9.5GABRA1, GABRG2, GABRD
5
Show member pathways
9.5GABRA1, GABRG2, GABRD
68.8SCN1A, SCN9A, SCN2A, CACNA1A
7
Show member pathways
8.8STXBP1, CACNA1A, GABRG2, GABRA1
88.7GABRA1, GABRG2, GABRD, CACNA1A
9
Show member pathways
8.7GABRA1, GABRG2, GABRD, CACNA1A
10
Show member pathways
8.5SCN8A, SCN1A, SCN9A, SCN2A, SCN3A
11
Show member pathways
8.4SCN1A, CACNA1A, GABRD, GABRG2, GABRA1
12
Show member pathways
8.4SCN8A, SCN1A, SCN1B, SCN9A, SCN3A
138.1SCN3A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A
14
Show member pathways
8.1SCN8A, SCN1A, SCN1B, SCN9A, SCN2A, SCN3A
15
Show member pathways
7.6SCN8A, SCN1A, SCN1B, SCN9A, SCN3A, CACNA1A
16
Show member pathways
7.6SCN8A, SCN1A, SCN1B, SCN9A, SCN3A, CACNA1A

Compounds for genes affiliated with Dravet Syndrome

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Compounds related to Dravet Syndrome according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1topiramate44 50 24 1113.1SCN1A, SCN2A, GABRA1
2flumazenil28 44 1112.0GABRA1, GABRG2
3phenytoin44 50 28 1112.9SCN1A, SCN2A, GABRA1
4(-)-bicuculline methochloride619.9GABRG2, GABRD, GABRA1
5carbamazepine44 50 1111.9GABRA1, SCN2A, SCN1A
6(+)-bicuculline619.9GABRA1, GABRG2, GABRD
7(-)-bicuculline methiodide619.9GABRD, GABRG2, GABRA1
8sr 95531 hydrobromide619.9GABRD, GABRG2, GABRA1
9estazolam44 1110.9GABRD, GABRG2, GABRA1
10quazepam44 1110.9GABRD, GABRG2, GABRA1
11thip289.9GABRA1, GABRD
12bromazepam44 1110.9GABRA1, GABRG2, GABRD
13flurazepam44 1110.8GABRD, GABRG2, GABRA1
14lorazepam44 50 1111.8GABRD, GABRG2, GABRA1
15oxazepam50 1110.8GABRD, GABRG2, GABRA1
16chlordiazepoxide44 1110.8GABRD, GABRG2, GABRA1
17tbps44 2810.8GABRA1, GABRG2, GABRD
18clonazepam44 1110.8GABRA1, GABRG2, GABRD
19picrotoxin44 28 1111.8GABRA1, GABRD
20muscimol44 61 2811.8GABRD, GABRG2, GABRA1
21triazolam44 1110.8GABRA1, GABRG2, GABRD
22clobazam44 50 1111.8GABRD, GABRG2, GABRA1
23alprazolam44 1110.8GABRD, GABRG2, GABRA1
24Gamma-Aminobutyric acid249.7GABRD, GABRG2, GABRA1
25midazolam44 50 1111.7GABRA1, GABRG2, GABRD
26lamotrigine44 50 1111.7SCN2A, SCN1A
27diazepam44 28 50 1112.7GABRA1, GABRG2, GABRD
28nitrazepam44 1110.7GABRA1, GABRG2, GABRD, SCN1A
29chlorine44 2410.4GABRA1, GABRG2, GABRD
30bc-iii289.3SCN8A, SCN1A, SCN2A, SCN3A
31atx-ii289.3SCN8A, SCN1A, SCN2A, SCN3A
32aft-ii289.3SCN8A, SCN1A, SCN2A, SCN3A
33zonisamide44 50 1111.2SCN1A, SCN1B, SCN9A, SCN2A, SCN3A
34valproic acid44 50 24 1112.1SCN2A, CACNA1A, GABRA1
35saxitoxin288.9SCN8A, SCN1A, SCN9A, SCN2A, SCN3A
36batrachotoxin288.9SCN8A, SCN1A, SCN9A, SCN2A, SCN3A
37veratridine44 61 2810.6SCN3A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A
38tetrodotoxin citrate618.6SCN9A, SCN1B, SCN1A, SCN8A, SCN2A, SCN3A
39qx 314 chloride618.6SCN3A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A
40phrixotoxin 3618.6SCN8A, SCN3A, SCN2A, SCN9A, SCN1B, SCN1A
41tetrodotoxin44 61 2810.6SCN8A, SCN1A, SCN1B, SCN9A, SCN2A, SCN3A
42potassium44 24 1110.4SCN8A, SCN1A, SCN1B, CACNA1A, GABRG2
43sodium44 248.2SCN8A, SCN1A, SCN1B, SCN9A, SCN2A, SCN3A

GO Terms for genes affiliated with Dravet Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:0147049.8SCN2A, SCN1B, SCN1A
2T-tubuleGO:0303159.7SCN2A, SCN1B, SCN1A
3axon initial segmentGO:0431949.6SCN1A, SCN8A
4chloride channel complexGO:0347079.6GABRD, GABRG2, GABRA1
5postsynaptic membraneGO:0452119.4GABRA1, GABRG2, GABRD
6node of RanvierGO:0332689.2SCN8A, SCN1A, SCN1B, SCN2A
7neuronal cell bodyGO:0430258.5SCN8A, SCN1A, CACNA1A
8voltage-gated sodium channel complexGO:0015188.3SCN3A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A
9plasma membraneGO:0058867.8SLC5A2, GABRA1, GABRG2, CACNA1A, PCDH19, PCDH10

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:05193210.1GABRA1, GABRG2
2neuronal action potential propagationGO:01922710.0SCN1B, SCN1A
3neuronal action potentialGO:0192289.8SCN9A, SCN1A
4myelinationGO:0425529.6SCN2A, SCN8A
5transportGO:0068109.4GABRD, GABRG2, GABRA1, SLC5A2
6behavioral response to painGO:0482669.4SCN9A, CACNA1A
7neuromuscular synaptic transmissionGO:0072749.4STXBP1, CACNA1A
8gamma-aminobutyric acid signaling pathwayGO:0072149.3GABRA1, GABRG2, CACNA1A
9adult walking behaviorGO:0076289.0SCN8A, SCN1A, CACNA1A
10membrane depolarizationGO:0518999.0CACNA1A, SCN1B
11sodium ion transportGO:0068148.8SCN8A, SCN1A, SCN9A, SCN2A, SCN3A
12sodium ion transmembrane transportGO:0357258.4SCN3A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A
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:0048909.5GABRD, GABRG2, GABRA1
2extracellular ligand-gated ion channel activityGO:0052309.4GABRA1, GABRG2, GABRD
3syntaxin bindingGO:0199059.4CACNA1A, STXBP1
4chloride channel activityGO:0052549.2GABRA1, GABRG2, GABRD
5voltage-gated sodium channel activityGO:0052488.2SCN3A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A

Products for genes affiliated with Dravet Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Dravet Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet