Article
A human mutation in Gabrg2 associated with generalized epilepsy alters the membrane dynamics of GABAA receptors.
Cerebral cortex (New York, N.Y. : 1991) - 1 Jul 2012
Bouthour Walid, Leroy Félix, Emmanuelli Charline, Carnaud Michèle, Dahan Maxime, Poncer Jean Christophe, Lévi Sabine
Abstract excerpt
Neuronal activity modulates the membrane diffusion of postsynaptic γ-aminobutyric acid (GABA)(A) receptors (GABA(A)Rs), thereby regulating the efficacy of GABAergic synapses. The K289M mutation in GABA(A)Rs subunit γ2 has been associated with the generalized epilepsy with febrile seizures plus (GEFS+) syndrome. This mutation accelerates receptor deactivation and therefore reduces inhibitory synaptic transmission....
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