title: A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.
abstract: Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043DeltaT) 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.
authors.affiliation: Department of Child Neuropsychiatry, 2nd University of Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Coppola
authors.forename: P
authors.initials: P
authors.lastname: Castaldo
authors.forename: E
authors.initials: E
authors.lastname: Miraglia del Giudice
authors.forename: G
authors.initials: G
authors.lastname: Bellini
authors.forename: F
authors.initials: F
authors.lastname: Galasso
authors.forename: M V
authors.initials: MV
authors.lastname: Soldovieri
authors.forename: L
authors.initials: L
authors.lastname: Anzalone
authors.forename: C
authors.initials: C
authors.lastname: Sferro
authors.forename: L
authors.initials: L
authors.lastname: Annunziato
authors.forename: A
authors.initials: A
authors.lastname: Pascotto
authors.forename: M
authors.initials: M
authors.lastname: Taglialatela
mesh_terms: D000200:Action Potentials; D000818:Animals; D016466:CHO Cells; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D006224:Cricetinae; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004594:Electrophysiology; D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D018014:Gene Transfer Techniques; D006801:Humans; D051658:KCNQ2 Potassium Channel; D008297:Male; D009154:Mutation; D009865:Oocytes / Q000378:metabolism; D010375:Pedigree; D015221:Potassium Channels / Q000235:genetics* / Q000378:metabolism; D024642:Potassium Channels, Voltage-Gated; D021122:Protein Subunits / Q000235:genetics / Q000378:metabolism; D013702:Temporal Lobe / Q000503:physiopathology*; D014981:Xenopus
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D021122:Protein Subunits