A novel GABRG2 mutation associated with febrile seizures.
نویسندگان
چکیده
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.
منابع مشابه
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
CONTEXT Missense mutations in the GABRG2 gene, which encodes the gamma 2 subunit of central nervous gamma-aminobutyric acid (GABA)(A) receptors, have recently been described in 2 families with idiopathic epilepsy. In one of these families, the affected individuals predominantly exhibited childhood absence epilepsy and febrile convulsions. OBJECTIVE To assess the role of GABRG2 in the genetic ...
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ورودعنوان ژورنال:
- Neurology
دوره 67 4 شماره
صفحات -
تاریخ انتشار 2006