The GABAA receptor γ2 subunit mutation R43Q is an autosomal dominant mutation associated with childhood absence epilepsy and febrile seizures. Previously, we demonstrated that homozygous α1β3γ2L(R43Q) receptor whole-cell currents had reduced ...

The GABAAγ2(R43Q) mouse has provided some of the first insights into how a human GABAA receptor mutation can, in small time scales, impact tonic and phasic inhibition and, in longer time scales, alter neurodevelopment and consequently seizure susceptibility.

Oct 6, 2004 · The GABA(A) receptor gamma2 subunit mutation R43Q is an autosomal dominant mutation associated with childhood absence epilepsy and febrile seizures.

Genetic defects leading to epilepsy have been identified in γ2 GABA A receptor subunit. A γ2 (R43Q) substitution is linked to childhood absence epilepsy and febrile seizure, and a γ2 (K289M) mutation is associated with generalized epilepsy with febrile seizures plus.

Apr 1, 2014 · R43Q mutation affecting the γ2-subunit N-terminal domain has been related to childhood absence epilepsy and febrile seizure. We investigated R43Q mutations of the GABRG2 gene, located on the long arm of chromosome 5 encoding the γ2-subunit of the gamma-aminobutyric acid A receptor.

Nov 1, 2004 · These results provide evidence that the gamma2S(R43Q) mutation impaired GABA(A) receptor function by compromising receptor trafficking and reducing surface expression.

The GABA A γ2(R43Q) mouse has provided some of the first insights into how a human GABA A receptor mutation can, in small time scales, impact tonic and phasic inhibition and, in longer time scales, alter neurodevelopment and consequently seizure susceptibility.

Feb 9, 2007 · Genetic defects leading to epilepsy have been identified in gamma2 GABA (A) receptor subunit. A gamma2 (R43Q) substitution is linked to childhood absence epilepsy and febrile seizure, and a gamma2 (K289M) mutation is associated with generalized epilepsy with febrile seizures plus.

Feb 9, 2007 · Genetic defects leading to epilepsy have been identified in γ2 GABA A receptor subunit. A γ2 (R43Q) substitution is linked to childhood absence epilepsy and febrile seizure, and a γ2 (K289M) mutation is associated with generalized epilepsy with febrile seizures plus.

Oct 6, 2004 · The GABAA receptor γ2 subunit mutation R43Q is an autosomal dominant mutation associated with childhood absence epilepsy and febrile seizures. Previously, we demonstrated that homozygous α1β3γ2L(R43Q) receptor whole-cell currents had reduced amplitude with unaltered time course, suggesting reduced cell surface expression of functional ...