Variant: rs542420576

present in Gene: SCN1A;SCN1A-AS1;LOC102724058 present in Chromosome: 2 Position on Chromosome: 166036371 Alleles of this Variant: G/A;T

rs542420576 in SCN1A;SCN1A-AS1;LOC102724058 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."

rs542420576 in SCN1A;SCN1A-AS1;LOC102724058 gene and X-linked infantile spasms PMID 21868258 2011 SCN1A mutational analysis in Korean patients with Dravet syndrome.