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A novel GABRG2 mutation associated with febrile seizures

From the Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium (D.A., K.G.C., L.C., L.D., A.S., T.V.D., C.V.B., P.D.J.); Neuroscience Graduate Program (E.S.) and Department of Neurology (R.L.M.), Vanderbilt University Medical Center, Nashville, TN; Division of Neurology, University Hospital of Antwerp, Antwerp, Belgium (K.G.C., P.D.J.); and Division of Child Neurology, University Hospital Gasthuisberg, Leuven, Belgium (L.L.).

Address correspondence and reprint requests to Dr. Peter De Jonghe, Neurogenetics Group, Department of Molecular Genetics University of Antwerp, Campus CDE Parking P4, Building V Universiteitsplein 1, 2610 Antwerp, Belgium; e-mail:peter.dejonghe{at}ua.ac.be

Mutations in the gene encoding the 2 subunit of the -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.

*These authors contributed equally to this work.

Financial support was received from the Fund for Scientific Research Flanders (FWO-F), the Medical Foundation Queen Elisabeth, and the Interuniversity Attraction Poles program P19/5 of the Federal Science Policy Office, Belgium, and NIH training grant T32 MH64913 (E.S.). D.A. is a PhD fellow of the FWO-F.

Disclosure: The authors report no conflicts of interest.

Received December 23, 2005. Accepted in final form April 24, 2006.

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