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Neurology 2003;61:131-134
© 2003 American Academy of Neurology
Brief Communications

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

G. Coppola, MD, P. Castaldo, PhD, E. Miraglia del Giudice, MD, G. Bellini, PhD, F. Galasso, BS, M.V. Soldovieri, BS, L. Anzalone, BS, C. Sferro, MD, L. Annunziato, MD, A. Pascotto, MD and M. Taglialatela, MD PhD

From the Departments of Child Neuropsychiatry (Drs. Coppola, Bellini, and Pascotto) and Pediatrics (Drs. Miraglia del Giudice and Bellini), 2nd University of Naples; Division of Pharmacology, Department of Neuroscience (Drs. Castaldo, Annunziato, and Taglialatela, and F. Galasso, M.V. Soldovieri, and L. Anzalone), University of Naples, Federico II; and Child Neuropsychiatry (Dr. Sferro), University of Messina, Italy.

Address correspondence and reprint requests to Dr. Maurizio Taglialatela, Division of Pharmacology, Dept. of Neuroscience, School of Medicine, University of Naples Federico II, Ed. 19, Via Pansini 5, 80131 Naples, Italy; e-mail: mtaglial{at}unina.it

Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1–base pair deletion (2043{Delta}T) 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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