A novel GABRG2 mutation associated with febrile seizures
- 22 August 2006
- journal article
- research article
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 67 (4), 687-690
- https://doi.org/10.1212/01.wnl.0000230145.73496.a2
Abstract
Mutations in the gene encoding the γ2 subunit of the γ-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.Keywords
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