Altered Cortical GABAA Receptor Composition, Physiology, and Endocytosis in a Mouse Model of a Human Genetic Absence Epilepsy Syndrome

Patients with generalized epilepsy exhibit cerebral cortical disinhibition. Likewise, mutations in the inhibitory ligand-gated ion channels, GABAA receptors (GABAARs), cause generalized epilepsy syndromes in humans. Recently, we demonstrated that heterozygous knock-out (Hetα1KO) of the human epileps...

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Veröffentlicht in:	The Journal of biological chemistry 2013-07, Vol.288 (29), p.21458-21472
Hauptverfasser:	Zhou, Chengwen, Huang, Zhiling, Ding, Li, Deel, M. Elizabeth, Arain, Fazal M., Murray, Clark R., Patel, Ronak S., Flanagan, Christopher D., Gallagher, Martin J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Benzodiazepines - pharmacology Brain Cell Membrane - drug effects Cell Membrane - metabolism Cerebral Cortex - drug effects Cerebral Cortex - metabolism Chlorocebus aethiops Confocal Microscopy COS Cells Disease Models, Animal Dynamins - metabolism Electrophysiology Endocytosis Endoplasmic Reticulum (ER) Endoplasmic Reticulum - drug effects Endoplasmic Reticulum - metabolism Epilepsy Epilepsy, Absence - genetics Epilepsy, Absence - pathology Epilepsy, Absence - physiopathology GABA Receptors GABA-A Receptor Agonists - pharmacology gamma-Aminobutyric Acid - metabolism Gene Expression Regulation - drug effects Glycosylation Heterozygote Humans Kinetics Membrane Trafficking Mice Mice, Knockout Models, Biological Molecular Bases of Disease Protein Binding - drug effects Protein Subunits - genetics Protein Subunits - metabolism Receptors, GABA-A - genetics Receptors, GABA-A - metabolism RNA, Messenger - genetics RNA, Messenger - metabolism Synapses - drug effects Synapses - metabolism Western Blotting
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