Novel α1 and γ2 GABA A receptor subunit mutations in families with idiopathic generalized epilepsy

European Journal of Neuroscience

Volumn 34, Issue 2, 2011, Pages 237-249

  Lachance Touchette, Pamela ^a   Brown, Patricia ^b   Meloche, Caroline ^a   Kinirons, Peter ^a   Lapointe, Line ^a   Lacasse, Hélène ^a   Lortie, Anne ^c   Carmant, Lionel ^c   Bedford, Fiona ^b   Bowie, Derek ^b   Cossette, Patrick ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Channelopathy; Gating; Genetics; Seizure; Synaptic inhibition

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; ASPARAGINE; ASPARTIC ACID; NEUROTRANSMITTER;

ARTICLE; CHROMOSOME ANALYSIS; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GABRA1 GENE; GABRG2 GENE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC IDENTIFICATION; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EPILEPSY, GENERALIZED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; PATCH-CLAMP TECHNIQUES; PEDIGREE; PROTEIN CONFORMATION; PROTEIN SUBUNITS; RECEPTORS, GABA-A; SEQUENCE ALIGNMENT;

EID: 79960391785     PISSN: 0953816X     EISSN: 14609568     Source Type: Journal    
DOI: 10.1111/j.1460-9568.2011.07767.x     Document Type: Article

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