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

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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

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Benign Neonatal Epilepsy
Epilepsy
Mutation
Base Pairing
Electroencephalography
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Coppola, G., Castaldo, P., Miraglia del Giudice, E., Bellini, G., Galasso, F., Soldovieri, M. V., ... Taglialatela, M. (2003). A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes. Neurology, 61(1), 131-134.

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, M. V.; Anzalone, L.; Sferro, C.; Annunziato, L.; Pascotto, A.; Taglialatela, Maurizio.

In: Neurology, Vol. 61, No. 1, 08.07.2003, p. 131-134.

Research output: Contribution to journalArticle

Coppola, G, Castaldo, P, Miraglia del Giudice, E, Bellini, G, Galasso, F, Soldovieri, MV, Anzalone, L, Sferro, C, Annunziato, L, Pascotto, A & Taglialatela, M 2003, 'A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes', Neurology, vol. 61, no. 1, pp. 131-134.
Coppola G, Castaldo P, Miraglia del Giudice E, Bellini G, Galasso F, Soldovieri MV et al. A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes. Neurology. 2003 Jul 8;61(1):131-134.
Coppola, G. ; Castaldo, P. ; Miraglia del Giudice, E. ; Bellini, G. ; Galasso, F. ; Soldovieri, M. V. ; Anzalone, L. ; Sferro, C. ; Annunziato, L. ; Pascotto, A. ; Taglialatela, Maurizio. / A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes. In: Neurology. 2003 ; Vol. 61, No. 1. pp. 131-134.
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