Article
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.
Proceedings of the National Academy of Sciences of the United States of America - 30 Oct 2007
Tan Heneu O, Reid Christopher A, Single Frank N, Davies Philip J, Chiu Cindy, Murphy Susan, Clarke Alison L, Dibbens Leanne, Krestel Heinz, Mulley John C, Jones Mathew V, Seeburg Peter H, Sakmann Bert, Berkovic Samuel F, Sprengel Rolf, Petrou Steven
Abstract excerpt
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...
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