Variant: rs118192234 

    present in Gene: LOC105372724;KCNQ2
    present in Chromosome: 20
    Position on Chromosome: 63413555
    Alleles of this Variant: C/A;G;T

rs118192234 in LOC105372724;KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

rs118192234 in LOC105372724;KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 11690625 2001 Ion channel variation causes epilepsies.

PMID 12754513 2003 AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists.

PMID 24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.