MCID: SCN067
MIFTS: 21

Scn1a Seizure Disorders

Categories: Rare diseases

Aliases & Classifications for Scn1a Seizure Disorders

MalaCards integrated aliases for Scn1a Seizure Disorders:

Name: Scn1a Seizure Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Scn1a seizure disorders show incomplete penetrance and variable expressivity....

Classifications:



Summaries for Scn1a Seizure Disorders

MalaCards based summary : Scn1a Seizure Disorders is related to genetic epilepsy with febrile seizures plus and generalized epilepsy with febrile seizures plus, type 1. An important gene associated with Scn1a Seizure Disorders is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Affiliated tissues include brain and testes, and related phenotype is normal.

GeneReviews: NBK1318

Related Diseases for Scn1a Seizure Disorders

Graphical network of the top 20 diseases related to Scn1a Seizure Disorders:



Diseases related to Scn1a Seizure Disorders

Symptoms & Phenotypes for Scn1a Seizure Disorders

MGI Mouse Phenotypes related to Scn1a Seizure Disorders:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.8 SCN1A SCN1B SCN9A

Drugs & Therapeutics for Scn1a Seizure Disorders

Search Clinical Trials , NIH Clinical Center for Scn1a Seizure Disorders

Genetic Tests for Scn1a Seizure Disorders

Anatomical Context for Scn1a Seizure Disorders

MalaCards organs/tissues related to Scn1a Seizure Disorders:

41
Brain, Testes

Publications for Scn1a Seizure Disorders

Articles related to Scn1a Seizure Disorders:

(showing 93, show less)
# Title Authors PMID Year
1
Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases. 4
29500686 2018
2
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. 4
28538134 2017
3
Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. 4
28284397 2017
4
Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. 4
28186331 2017
5
Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine. 4
27197941 2016
6
Incidence of Dravet Syndrome in a US Population. 4
26438699 2015
7
Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications. 4
25843248 2015
8
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype. 4
25754450 2015
9
The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009. 4
25778844 2015
10
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 4
23808377 2013
11
Stiripentol in Dravet syndrome: results of a retrospective U.S. study. 4
23848835 2013
12
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. 4
23103419 2013
13
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. 4
23762420 2013
14
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. 4
23016767 2012
15
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 4
22780858 2012
16
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 4
22719002 2012
17
Successful use of fenfluramine as an add-on treatment for Dravet syndrome. 4
22554283 2012
18
Progressive gait deterioration in adolescents with Dravet syndrome. 4
22409937 2012
19
Safety and side effects of cannabidiol, a Cannabis sativa constituent. 4
22129319 2011
20
Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3. 4
21692795 2011
21
Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: a prospective pilot study. 4
21569025 2011
22
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 4
21269283 2011
23
Genotype-phenotype associations in SCN1A-related epilepsies. 4
21248271 2011
24
A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome. 4
21219303 2011
25
Sodium channel SCN1A and epilepsy: mutations and mechanisms. 4
20831750 2010
26
Milder phenotype with SCN1A truncation mutation other than SMEI. 4
20630778 2010
27
Long-term outcome and tolerability of the ketogenic diet in drug-resistant childhood epilepsy--the Austrian experience. 4
20598586 2010
28
Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. 4
20491869 2010
29
Cannabinoid-induced apoptosis in immune cells as a pathway to immunosuppression. 4
19457575 2010
30
Dravet syndrome and deep brain stimulation: seizure control after 10 years of treatment. 4
19919661 2010
31
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene. 4
20484682 2010
32
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 4
20522430 2010
33
NaV1.1 channels and epilepsy. 4
20194124 2010
34
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. 4
20447868 2010
35
Levetiracetam-induced seizure aggravation associated with continuous spikes and waves during slow sleep in children with refractory epilepsies. 4
20483715 2010
36
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. 4
20562086 2010
37
Unusual consequences of status epilepticus in Dravet syndrome. 4
20172746 2010
38
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 4
19589774 2010
39
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 4
19782004 2009
40
Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes. 4
19764027 2009
41
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy. 4
19303743 2009
42
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 4
19400878 2009
43
Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs. 4
19369666 2009
44
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. 4
19339291 2009
45
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 4
18930999 2009
46
Lacosamide: a new approach to target voltage-gated sodium currents in epileptic disorders. 4
19552484 2009
47
A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. 4
18755274 2008
48
Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome)--a nationwide questionnaire survey in Japan. 4
18424028 2008
49
Coping with a child with Dravet syndrome: insights from families. 4
18344453 2008
50
A screening test for the prediction of Dravet syndrome before one year of age. 4
18076640 2008
51
Rasmussen encephalitis associated with SCN 1 A mutation. 4
18031552 2008
52
Acute hepatic injury in four children with Dravet syndrome: valproic acid, topiramate or acetaminophen? 4
17697789 2008
53
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 4
17561957 2007
54
SCN1A mutation associated with atypical Panayiotopoulos syndrome. 4
17679682 2007
55
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. 4
17381446 2007
56
The spectrum of SCN1A-related infantile epileptic encephalopathies. 4
17347258 2007
57
2q24-q31 deletion: report of a case and review of the literature. 4
17088112 2007
58
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 4
17030758 2006
59
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. 4
16865694 2006
60
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. 4
16921370 2006
61
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. 4
17000989 2006
62
Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. 4
16806826 2006
63
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. 4
16713920 2006
64
Stiripentol, a putative antiepileptic drug, enhances the duration of opening of GABA-A receptor channels. 4
16650136 2006
65
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 4
16430863 2006
66
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. 4
16326807 2005
67
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. 4
16122630 2005
68
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. 4
16054936 2005
69
SCN1A mutations and epilepsy. 4
15880351 2005
70
Severe myoclonic epilepsy in infancy: toward an optimal treatment. 4
15526956 2004
71
Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A. 4
15249644 2004
72
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. 4
15277629 2004
73
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 4
15087100 2004
74
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). 4
14738421 2004
75
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. 4
14738422 2004
76
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. 4
14504318 2003
77
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 4
12821740 2003
78
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 4
12566275 2003
79
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. 4
12773292 2003
80
Sodium channels SCN1A, SCN2A and SCN3A in familial autism. 4
12610651 2003
81
[Long-term efficacy and tolerance of stiripentaol in severe myoclonic epilepsy of infancy (Dravet's syndrome)]. 4
12503502 2002
82
Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial. 4
11948006 2002
83
Phenytoin-induced choreoathetosis in patients with severe myoclonic epilepsy in infancy. 4
11748493 2001
84
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? 4
11488881 2001
85
Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. 4
11089822 2000
86
Obstructive sleep apnea is common in medically refractory epilepsy patients. 4
11061259 2000
87
From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. 4
10798388 2000
88
Lamotrigine and seizure aggravation in severe myoclonic epilepsy. 4
9596203 1998
89
Maternal use of antiepileptic drugs and the risk of major congenital malformations: a joint European prospective study of human teratogenesis associated with maternal epilepsy. 4
9579936 1997
90
Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review. 4
7717414 1995
91
Mechanisms of effects of d-fenfluramine on brain serotonin metabolism in rats: uptake inhibition versus release. 4
2463643 1988
92
Carbamazepine-exacerbated epilepsy in children and adolescents. 4
3508708 1986
93
SCN1A Seizure Disorders 38
20301494 2007

Variations for Scn1a Seizure Disorders

Expression for Scn1a Seizure Disorders

Search GEO for disease gene expression data for Scn1a Seizure Disorders.

Pathways for Scn1a Seizure Disorders

Pathways related to Scn1a Seizure Disorders according to GeneCards Suite gene sharing:

(showing 9, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 SCN9A SCN1B SCN1A
2
Show member pathways
12.82 SCN9A SCN1B SCN1A
3
Show member pathways
12.45 SCN9A SCN1B SCN1A
4
Show member pathways
12.27 SCN9A SCN1B SCN1A
5
Show member pathways
12.09 SCN9A SCN1B SCN1A
6 11.97 SCN9A SCN1B SCN1A
7
Show member pathways
11.43 SCN9A SCN1B SCN1A
8
Show member pathways
11.01 SCN9A SCN1B SCN1A
9 10.28 SCN9A SCN1B SCN1A

GO Terms for Scn1a Seizure Disorders

Cellular components related to Scn1a Seizure Disorders according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.37 SCN9A SCN1A
2 intercalated disc GO:0014704 9.32 SCN1B SCN1A
3 T-tubule GO:0030315 9.26 SCN1B SCN1A
4 node of Ranvier GO:0033268 9.16 SCN1B SCN1A
5 sodium channel complex GO:0034706 8.96 SCN1B SCN1A
6 voltage-gated sodium channel complex GO:0001518 8.8 SCN9A SCN1B SCN1A

Biological processes related to Scn1a Seizure Disorders according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.61 SCN9A SCN1B SCN1A
2 ion transmembrane transport GO:0034220 9.46 SCN9A SCN1A
3 neuronal action potential GO:0019228 9.4 SCN9A SCN1A
4 membrane depolarization during action potential GO:0086010 9.37 SCN9A SCN1A
5 regulation of ion transmembrane transport GO:0034765 9.33 SCN9A SCN1B SCN1A
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.32 SCN1B SCN1A
7 neuronal action potential propagation GO:0019227 9.26 SCN1B SCN1A
8 sodium ion transport GO:0006814 9.13 SCN9A SCN1B SCN1A
9 sodium ion transmembrane transport GO:0035725 8.8 SCN9A SCN1B SCN1A

Molecular functions related to Scn1a Seizure Disorders according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.33 SCN9A SCN1B SCN1A
2 ion channel activity GO:0005216 9.26 SCN9A SCN1A
3 sodium channel activity GO:0005272 9.13 SCN9A SCN1B SCN1A
4 voltage-gated sodium channel activity GO:0005248 8.8 SCN9A SCN1B SCN1A

Sources for Scn1a Seizure Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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