Variant: rs118192194 

    present in Gene: KCNQ2;KCNQ2-AS1
    present in Chromosome: 20
    Position on Chromosome: 63446769
    Alleles of this Variant: G/A

rs118192194 in KCNQ2;KCNQ2-AS1 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 16916607 2006 Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

rs118192194 in KCNQ2;KCNQ2-AS1 gene and X-linked infantile spasms PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 16916607 2006 Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

PMID 26544041 2015 Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.