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A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes
G Coppola1, P Castaldo, E Miraglia del Giudice
1Department of Child Neuropsychiatry, 2nd University of Naples, Italy.
Neurology
|July 9, 2003
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.