Journal article
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy
Heneu O Tan, Christopher A Reid, Frank N Single, Philip J Davies, Cindy Chiu, Susan Murphy, Alison L Clarke, Leanne Dibbens, Heinz Krestel, John C Mulley, undefined others
Proceedings of the National Academy of Sciences | National Acad Sciences | Published : 2007
Abstract
Mutations in the GABA(A) receptor gamma2 subunit are associated with childhood absence epilepsy and febrile seizures. To understand better the molecular basis of absence epilepsy in man, we developed a mouse model harboring a gamma2 subunit point mutation (R43Q) found in a large Australian family. Mice heterozygous for the mutation demonstrated behavioral arrest associated with 6-to 7-Hz spike-and-wave discharges, which are blocked by ethosuximide, a first-line treatment for absence epilepsy in man. Seizures in the mouse showed an abrupt onset at around age 20 days corresponding to the childhood nature of this disease. Reduced cell surface expression of gamma2(R43Q) was seen in heterozygous ..
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