Variant: rs1553519902 

    present in Gene: LOC102724058;SCN1A-AS1;SCN1A
    present in Chromosome: 2
    Position on Chromosome: 165991548
    Alleles of this Variant: AGT/-

rs1553519902 in LOC102724058;SCN1A-AS1;SCN1A gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 17054685 2006 Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

PMID 12083760 2002 Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

PMID 28102150 2017 Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 28202706 2017 Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.