Journal article

Intracortical hyperexcitability in humans with a GABA(A) receptor mutation

Marco Fedi, Samuel F Berkovic, Richard AL Macdonell, Josie M Curatolo, Carla Marini, David C Reutens

Cerebral Cortex | OXFORD UNIV PRESS INC | Published : 2008

Abstract

A missense mutation of the gamma2 subunit of the gamma-aminobutyric acid A (GABA(A)) receptor has been linked to an inherited human generalized epilepsy. As synaptic inhibition in the human brain is largely mediated by the GABA(A) receptor, we tested the hypothesis that the GABRG2(R43Q) mutation alters cortical excitability. Fourteen subjects affected by the GABRG2(R43Q) mutation (5 males, mean age: 44 +/- 15 years) and 24 controls (11 males, mean age: 38 +/- 11 years) were studied with transcranial magnetic stimulation (TMS). To assess the specificity of the effect of the mutation, 4 additional family members unaffected by the GABRG2(R43Q) mutation (2 males, mean age: 41 +/- 16 years) were ..

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