Article
Developmental impact of a familial GABAA receptor epilepsy mutation.
Annals of neurology - 1 Sept 2008
Chiu Cindy, Reid Christopher A, Tan Heneu O, Davies Philip J, Single Frank N, Koukoulas Irene, Berkovic Samuel F, Tan Seong-Seng, Sprengel Rolf, Jones Mathew V, Petrou Steven
Abstract excerpt
OBJECTIVE: A major goal of epilepsy research is to understand the molecular and functional basis of seizure genesis. A human GABA(A) gamma2 gene mutation (R43Q) is associated with generalized epilepsy. Introduction of this mutation into a mouse by gene targeting recapitulates the human phenotype demonstrating a strong genotype to phenotype link. GABA(A) receptors play a role in the moment-to-moment control of...
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