Variant: rs1057516082 

    present in Gene: KCNQ2
    present in Chromosome: 20
    Position on Chromosome: 63444826
    Alleles of this Variant: C/G

rs1057516082 in KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 25092550 2015 Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation.

PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.