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

Journal of Neuroscience

Volumn 32, Issue 17, 2012, Pages 5937-5952

  Tian, Mengnan ^a,b   Macdonald, Robert L ^a,b  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; MESSENGER RNA;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CONFOCAL MICROSCOPY; CONTROLLED STUDY; ELECTROPHYSIOLOGY; EMBRYO; EXON; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENOTYPING TECHNIQUE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; INTRON; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA INTERFERENCE; RNA SPLICING; STOP CODON; TRANSGENIC MOUSE;

ANALYSIS OF VARIANCE; ANIMALS; BRAIN; CELL LINE, TRANSFORMED; CELLS, CULTURED; CEREBRAL CORTEX; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CODON, NONSENSE; EMBRYO, MAMMALIAN; FLOW CYTOMETRY; GAMMA-AMINOBUTYRIC ACID; GENE EXPRESSION REGULATION; HUMANS; IMMUNOPRECIPITATION; INTRONS; MEMBRANE POTENTIALS; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MICROSCOPY, CONFOCAL; MODELS, MOLECULAR; MUTATION; NEURONS; NONSENSE MEDIATED MRNA DECAY; PATCH-CLAMP TECHNIQUES; PROTEIN SUBUNITS; PROTEIN TRANSPORT; RATS; RATS, SPRAGUE-DAWLEY; RECEPTORS, GABA-A; RNA SPLICING; RNA, MESSENGER; RNA, SMALL INTERFERING; TRANSFECTION;

EID: 84860200746     PISSN: 02706474     EISSN: 15292401     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.5332-11.2012     Document Type: Article

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