A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
Abstract
Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in two genes, KCNQ2 and KCNQ3, encoding for potassium channel subunits underlying the M-current. This current limits neuronal hyperexcitability by causing spike-frequency adaptation.