Variant: rs794726744 

    present in Gene: LOC102724058;SCN1A;SCN1A-AS1
    present in Chromosome: 2
    Position on Chromosome: 166013743
    Alleles of this Variant: C/A;T

rs794726744 in LOC102724058;SCN1A;SCN1A-AS1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 24168886 2014 Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PMID 23808377 2013 Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PMID 14504318 2003 Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

rs794726744 in LOC102724058;SCN1A;SCN1A-AS1 gene and Early Infantile Epileptic Encephalopathy 6 PMID 26096185 2015 "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."