A novel GABRG2 mutation associated with febrile seizures.
case_series · Level IV
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Abstract
Mutations in the gene encoding the gamma2 subunit of the gamma-aminobutyric acid type A receptor (GABRG2) have been reported to cause childhood absence epilepsy (CAE), febrile seizures (FS), and generalized epilepsy with FS plus (GEFS+). The authors analyzed GABRG2 in 47 unrelated patients with CAE, FS, and GEFS+ and identified a novel mutation that cosegregated with FS. Electrophysiologic studies demonstrated altered current desensitization and reduced benzodiazepine enhancement in mutant receptors.
Medical subject headings
- Epilepsy, Absence
- Epilepsy, Generalized
- Receptors, GABA-A
- Risk Assessment
- Seizures, Febrile