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

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

Research output: Contribution to journalArticle

Abstract

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

Original languageEnglish
Pages (from-to)131-134
Number of pages4
JournalNeurology
Volume61
Issue number1
Publication statusPublished - Jul 8 2003

ASJC Scopus subject areas

  • Neuroscience(all)

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