Variant: rs1057518487 

    present in Gene: SCN8A
    present in Chromosome: 12
    Position on Chromosome: 51688775
    Alleles of this Variant: T/C

rs1057518487 in SCN8A gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 29121005 2018 De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.