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

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

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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 language	English
Pages (from-to)	131-134
Number of pages	4
Journal	Neurology
Volume	61
Issue number	1
Publication status	Published - Jul 8 2003

ASJC Scopus subject areas

Neuroscience(all)

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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, 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 journal › Article › peer-review

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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.",

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AU - Miraglia del Giudice, E.

AU - Bellini, G.

AU - Galasso, F.

AU - Soldovieri, M. V.

AU - Anzalone, L.

AU - Sferro, C.

AU - Annunziato, L.

AU - Pascotto, A.

AU - Taglialatela, Maurizio

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AB - 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.

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

Abstract

ASJC Scopus subject areas

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