Article
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.
Neurology - 8 Jul 2003
Coppola G, Castaldo P, Miraglia del Giudice E, Bellini G, Galasso F, Soldovieri M V, Anzalone L, Sferro C, Annunziato L, Pascotto A, Taglialatela M
Abstract excerpt
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...
Topics
- Action Potentials
- Animals
- CHO Cells
- Cells, Cultured
- Child
- Child, Preschool
- Cricetinae
- DNA Mutational Analysis
- Electroencephalography
- Electrophysiology
- Epilepsy, Benign Neonatal
- Female
- Gene Transfer Techniques