Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1–base pair deletion (2043T) 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.
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes / Coppola, G; Castaldo, Pasqualina; Miraglia del Giudice, E; Bellini, G; Galasso, F; Soldovieri, Mv; Anzalone, L; Sferro, C; Annunziato, Lucio; Pascotto, A; Taglialatela, Maurizio. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 61:1(2003), pp. 131-134.
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes
CASTALDO, PASQUALINA;ANNUNZIATO, LUCIO;TAGLIALATELA, MAURIZIO
2003
Abstract
Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1–base pair deletion (2043T) 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
