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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Action Potentials
-
Animals
-
CHO Cells
-
Cells, Cultured
-
Child
-
Child, Preschool
-
Cricetinae
-
DNA Mutational Analysis
-
Electroencephalography
-
Electrophysiology
-
Epilepsy, Benign Neonatal / diagnosis*
-
Epilepsy, Benign Neonatal / genetics*
-
Epilepsy, Benign Neonatal / physiopathology
-
Female
-
Gene Transfer Techniques
-
Humans
-
KCNQ2 Potassium Channel
-
Male
-
Mutation*
-
Oocytes / metabolism
-
Pedigree
-
Potassium Channels / genetics*
-
Potassium Channels / metabolism
-
Potassium Channels, Voltage-Gated
-
Protein Subunits / genetics
-
Protein Subunits / metabolism
-
Temporal Lobe / physiopathology*
-
Xenopus
Substances
-
KCNQ2 Potassium Channel
-
KCNQ2 protein, human
-
Potassium Channels
-
Potassium Channels, Voltage-Gated
-
Protein Subunits