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XB-ART-5029
Neurology 2003 Jul 08;611:131-4. doi: 10.1212/01.wnl.0000069465.53698.bd.
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A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.

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


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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.

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Species referenced: Xenopus
Genes referenced: chrna4 kcnq2