Variant: rs118192226 

    present in Gene: KCNQ2
    present in Chromosome: 20
    Position on Chromosome: 63415086
    Alleles of this Variant: G/A;T

rs118192226 in KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PMID 14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

PMID 11690625 2001 Ion channel variation causes epilepsies.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 20119593 2010 The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.

rs118192226 in KCNQ2 gene and Seizures PMID 20119593 2010 The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 6476007 1984 Familial neonatal and infantile seizures: an autosomal-dominant disorder.

PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.