Journal article

Developmental impact of a familial GABA(A) receptor epilepsy mutation

Cindy Chiu, Christopher A Reid, Heneu O Tan, Philip J Davies, Frank N Single, Irene Koukoulas, Samuel F Berkovic, Seong-Seng Tan, Rolf Sprengel, Mathew V Jones, Steven Petrou

ANNALS OF NEUROLOGY | WILEY | Published : 2008


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 brain function and also on the long-term wiring of the brain by directing neuronal development. Our objective was to determine whether developmental expression of the mutation alters seizure susceptibility later in life. METHODS: A tetracycline-based conditional model for activation of ..

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