Referenced in: none

Automatically associated channels: Kv7.2 , Kv7.3

Title: A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.

Authors: G Coppola, P Castaldo, E Miraglia del Giudice, G Bellini, F Galasso, M V Soldovieri, L Anzalone, C Sferro, L Annunziato, A Pascotto, M Taglialatela

Journal, date & volume: Neurology, 2003 Jul 8 , 61, 131-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/12847176

Abstract
Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 years. Electrophysiologic studies showed that mutant K+ channel subunits failed to give rise to functional homomeric channels or exert dominant-negative effects when expressed with KCNQ2/KCNQ3 subunits.