Abstract
Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043AT) 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.
Original language | English |
---|---|
Pages (from-to) | 131-134 |
Number of pages | 4 |
Journal | Neurology |
Volume | 61 |
Issue number | 1 |
Publication status | Published - Jul 8 2003 |
ASJC Scopus subject areas
- Neuroscience(all)