Description
KCNQ2, also called kv7.2, is a potassium channel protein coded for by the gene KCNQ2. It is mapped to 20q13.33. The KCNQ2 gene encodes a voltage-gated potassium channel that is expressed in the brain. Expression of human KCNQ2 in Xenopus laevis oocytes led to potassium-selective currents that activated slowly with depolarization. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1(EBN1). At least five transcript variants encoding five different isoforms have been found for this gene