×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
20522430 2010
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
12821740 2003
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.
23086956 2012
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
12083760 2002
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
15944908 2005
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
23195492 2012
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
12754708 2003
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
19589774 2010
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
20431604 2010
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
20729507 2010
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
14672992 2003
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
12754708 2003
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort.
15508916 2005
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
Biomarker
GENOMICS_ENGLAND
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.
19332696 2009
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
17054684 2006
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.
16713920 2006
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
Parental SCN1A mutation mosaicism in familial Dravet syndrome.
19673951 2009
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
27864847 2017
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
19783390 2009
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
Biomarker
MGD
Severe peri-ictal respiratory dysfunction is common in Dravet syndrome.
29329111 2018
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
26993267 2016
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus].
21425109 2011
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
20879882 2010
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
12566275 2003
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
CausalMutation
CLINVAR
Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.
22150645 2012