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

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/325756
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