基因名：
KCNQ2
产品别名：
BFNC； DEE7； EBN； EBN1； ENB1； HNSPC； KCNA11； KV7.2； KCNQ2； potassium voltage-gated channel subfamily Q member 2； potassium voltage-gated channel subfamily Q member 2； potassium voltage-gated channel subfamily KQT member 2； neuroblastoma-specific potassium channel subunit alpha KvLQT2； potassium channel, voltage gated KQT-like subfamily Q, member 2； voltage-gated potassium channel subunit Kv7.2； 钾离子通道蛋白家族KCNQ2；
背景信息：
Epilepsy affects about 0.5% of the world’s population and has a large genetic component. Epilepsy results from an electrical hyperexcitability in the central nervous system. Potassium channels are important regulators of electrical signaling, determining the firing properties and responsiveness of a variety of neurons. Benign familial neonatal convulsions (BFNC), an autosomal dominant epilepsy of infancy, has been shown to be caused by mutations in the KCNQ2 or the KCNQ3 potassium channel genes. KCNQ2 and KCNQ3 are voltage-gated potassium channel proteins with six putative transmembrane domains. Both proteins display a broad distribution within the brain, with expression patterns that largely overlap.
