OBJECTIVE: To detect mutations in GABRA1 in idiopathic generalized epilepsy. METHODS: GABRA1 was sequenced in 98 unrelated idiopathic generalized epilepsy patients. Patch clamping and confocal imaging was performed in transfected mammalian cells. RESULTS: We identified the first GABRA1 mutation in a patient with childhood absence epilepsy. Functional studies showed no detectable GABA-evoked currents for the mutant, truncated receptor, which was not integrated into the surface membrane. INTERPRETATION: We conclude that this de novo mutation can contribute to the cause of "sporadic" childhood absence epilepsy by a loss of function and haploinsufficiency of the GABA(A) receptor alpha(1)-subunit, and that GABRA1 mutations rarely are associated with idiopathic generalized epilepsy. Ann Neurol 2006;59:983-987.
OBJECTIVE: To detect mutations in GABRA1 in idiopathic generalized epilepsy. METHODS:GABRA1 was sequenced in 98 unrelated idiopathic generalized epilepsypatients. Patch clamping and confocal imaging was performed in transfected mammalian cells. RESULTS: We identified the first GABRA1 mutation in a patient with childhood absence epilepsy. Functional studies showed no detectable GABA-evoked currents for the mutant, truncated receptor, which was not integrated into the surface membrane. INTERPRETATION: We conclude that this de novo mutation can contribute to the cause of "sporadic" childhood absence epilepsy by a loss of function and haploinsufficiency of the GABA(A) receptor alpha(1)-subunit, and that GABRA1 mutations rarely are associated with idiopathic generalized epilepsy. Ann Neurol 2006;59:983-987.
Authors: Robert M Mitchell; Megan J Janssen; Irina Karavanova; Detlef Vullhorst; Katrina Furth; Anthony Makusky; Sanford P Markey; Andres Buonanno Journal: Proc Natl Acad Sci U S A Date: 2013-11-11 Impact factor: 11.205
Authors: Barry A Chioza; Jean Aicardi; Harald Aschauer; Oebele Brouwer; Petra Callenbach; Athanasios Covanis; Joseph M Dooley; Olivier Dulac; Martina Durner; Orvar Eeg-Olofsson; Martha Feucht; Mogens Laue Friis; Renzo Guerrini; Marianne Juel Kjeldsen; Rima Nabbout; Lina Nashef; Thomas Sander; Auli Sirén; Elaine Wirrell; Paul McKeigue; Robert Robinson; R Mark Gardiner; Kate V Everett Journal: Epilepsy Res Date: 2009-10-17 Impact factor: 3.045
Authors: David W Cope; Giuseppe Di Giovanni; Sarah J Fyson; Gergely Orbán; Adam C Errington; Magor L Lorincz; Timothy M Gould; David A Carter; Vincenzo Crunelli Journal: Nat Med Date: 2009-11-22 Impact factor: 53.440