The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression.

Hernandez CC, Gurba KN, Hu N, Macdonald RL
J Physiol. 2011 589 (Pt 23): 5857-78

PMID: 21930603 · PMCID: PMC3249055 · DOI:10.1113/jphysiol.2011.218883

MeSH Terms (9)

Epilepsy, Absence HEK293 Cells Humans Ion Channel Gating Models, Molecular Mutation Protein Structure, Tertiary Protein Subunits Receptors, GABA-A

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