MV Soldovieri, MR Cilio, F Miceli, G Bellini… - Journal of …, 2007 - Soc Neuroscience
Heteromeric assembly of KCNQ2 and KCNQ3 subunits underlie the M-current (I KM), a
slowly activating and noninactivating neuronal K+ current. Mutations in KCNQ2 and KCNQ3
genes cause benign familial neonatal convulsions (BFNCs), a rare autosomal-dominant
epilepsy of the newborn. In the present study, we describe the identification of a novel
KCNQ2 heterozygous mutation (c587t) in a BFNC-affected family, leading to an alanine to
valine substitution at amino acid position 196 located at the N-terminal end of the voltage …