A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.
case_report · Level V
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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.
Medical subject headings
- Epilepsy, Benign Neonatal
- Mutation
- Potassium Channels
- Temporal Lobe