A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.
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.
Coppola
G
G
Department of Child Neuropsychiatry, 2nd University of Naples, Italy.
Castaldo
P
P
Miraglia del Giudice
E
E
Bellini
G
G
Galasso
F
F
Soldovieri
M V
MV
Anzalone
L
L
Sferro
C
C
Annunziato
L
L
Pascotto
A
A
Taglialatela
M
M
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
D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D021122:Protein Subunits