Article
Intracortical hyperexcitability in humans with a GABAA receptor mutation.
Cerebral cortex (New York, N.Y. : 1991) - 1 Mar 2008
Fedi Marco, Berkovic Samuel F, Macdonell Richard A L, Curatolo Josie M, Marini Carla, Reutens David C
Abstract excerpt
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...
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