The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters α6β2γ2 and α6β2δ GABAAreceptor channel gating and expression

Glycosylation of β2 Subunits Regulates GABAAReceptor Biogenesis and Channel Gating

(2010) Wen-yi Lo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

GABAAReceptor α1 Subunit Mutation A322D Associated with Autosomal Dominant Juvenile Myoclonic Epilepsy Reduces the Expression and Alters the Composition of Wild Type GABAAReceptors

(2010) Li Ding et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in GABAAreceptor subunits associated with genetic epilepsies

(2010) Robert L. Macdonald et al.   JOURNAL OF PHYSIOLOGY-LONDON

Modulation of Spontaneous and GABA-Evoked Tonic α4β3δ and α4β3γ2L GABAA Receptor Currents by Protein Kinase A

(2009) Xin Tang et al.   JOURNAL OF NEUROPHYSIOLOGY

An Epilepsy-Related Region in the GABAA Receptor Mediates Long-Distance Effects on GABA and Benzodiazepine Binding Sites

(2009) M. P. Goldschen-Ohm et al.   MOLECULAR PHARMACOLOGY

The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies

(2009) L.M. Dibbens et al.   NEUROSCIENCE LETTERS

Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy

(2008) Miyabi Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Conserved Cys-loop Receptor Aspartate Residue in the M3-M4 Cytoplasmic Loop Is Required for GABAAReceptor Assembly

(2008) Wen-yi Lo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A conserved salt bridge critical for GABAA receptor function and loop C dynamics

(2008) S. P. Venkatachalan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA