Variant: rs118192185 

    present in Gene: KCNQ2
    present in Chromosome: 20
    Position on Chromosome: 63472463
    Alleles of this Variant: T/C

rs118192185 in KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

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

PMID 25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

rs118192185 in KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

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

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