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

Journal of Physiology

Volumn 589, Issue 23, 2011, Pages 5857-5878

  Hernandez, Ciria C ^a   Gurba, Katharine N ^b   Hu, Ningning ^a   Macdonald, Robert L ^a,b  

^a VANDERBILT UNIVERSITY   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; 4 AMINOBUTYRIC ACID A RECEPTOR ALPHA6; 4 AMINOBUTYRIC ACID A RECEPTOR ALPHA6BETA2DELTA; 4 AMINOBUTYRIC ACID A RECEPTOR ALPHA6BETA2GAMMA2; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; DNA; UNCLASSIFIED DRUG;

ABSENCE; ACTION POTENTIAL; ARTICLE; CHANNEL GATING; CONTROLLED STUDY; EMBRYO; GABAERGIC TRANSMISSION; GENE CONSTRUCT; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOPATHOGENESIS; MICROSCOPY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RECEPTOR DOWN REGULATION; SEQUENCE HOMOLOGY; WHOLE CELL;

EPILEPSY, ABSENCE; HEK293 CELLS; HUMANS; ION CHANNEL GATING; MODELS, MOLECULAR; MUTATION; PROTEIN STRUCTURE, TERTIARY; PROTEIN SUBUNITS; RECEPTORS, GABA-A;

EID: 82455166975     PISSN: 00223751     EISSN: 14697793     Source Type: Journal    
DOI: 10.1113/jphysiol.2011.218883     Document Type: Article

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