KCNQ2 gene and its related diseases / 国际儿科学杂志

ABSTRACT

KCNQ2 encodes a voltage-gated potassium channel that is expressed in the brain.KCNQ2 mutation causes different disease severity ranging from benign familial neonatal seizures 1 with mild clinical symptoms and good psychomotor development at the mild end to early infantile epileptic encephalopathy 7 with severe clinical symptoms and moderate to severe psychomotor developmental abnormalities.At present, according to mutation sites, the pathogenesis of KCNQ2-related disorders includes loss-of-function effects and gain-of-function effects.This article reviews the pathogenesis and clinical manifestations of KCNQ2 gene and KCNQ2-related disorders.