Tian, Mengnan <br/><br/>
The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.  [electronic resource] 

 -  The Journal of neuroscience : the official journal of the Society for Neuroscience  Apr 2012 
 - 5937-52 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1529-2401 
<br/><br/><label>Standard No.: </label>10.1523/JNEUROSCI.5332-11.2012  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Analysis of Variance<br/>Animals<br/>Brain--metabolism<br/>Cell Line, Transformed<br/>Cells, Cultured<br/>Cerebral Cortex--cytology<br/>Chromosomes, Artificial, Bacterial--genetics<br/>Codon, Nonsense--genetics<br/>Embryo, Mammalian<br/>Flow Cytometry<br/>Gene Expression Regulation--genetics<br/>Humans<br/>Immunoprecipitation<br/>Introns--genetics<br/>Membrane Potentials--drug effects<br/>Mice<br/>Mice, Inbred C57BL<br/>Mice, Transgenic<br/>Microscopy, Confocal<br/>Models, Molecular<br/>Mutation--genetics<br/>Neurons--drug effects<br/>Nonsense Mediated mRNA Decay--genetics<br/>Patch-Clamp Techniques<br/>Protein Subunits--metabolism<br/>Protein Transport--genetics<br/>RNA Splicing--genetics<br/>RNA, Messenger--metabolism<br/>RNA, Small Interfering--genetics<br/>Rats<br/>Rats, Sprague-Dawley<br/>Receptors, GABA-A--genetics<br/>Transfection--methods<br/>gamma-Aminobutyric Acid--pharmacology