Molecular analysis of the A322D mutation in the GABAA receptor α1-subunit causing juvenile myoclonic epilepsy

European Journal of Neuroscience

Volumn 22, Issue 1, 2005, Pages 10-20

  Krampfl, Klaus ^a,b   Maljevic, Snezana ^c   Cossette, Patrick ^d   Ziegler, Elke ^a,b   Rouleau, Guy A ^d   Lerche, Holger ^c   Bufler, Johannes ^a,b  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b CENTER FOR SYSTEMS NEUROSCIENCE   (Germany)

^c UNIVERSITY OF ULM   (Germany)

^d NOTRE DAME HOSPITAL   (Canada)

Author keywords

Fast application; Fluorescence imaging; Idiopathic epilepsy; Ligand gated ion channel; Recombinant receptor

Indexed keywords

4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR; 4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; 4 AMINOBUTYRIC ACID A RECEPTOR BETA2; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; ALANINE; ASPARTIC ACID; ENHANCED GREEN FLUORESCENT PROTEIN; MUTANT PROTEIN; RECEPTOR SUBUNIT; RECOMBINANT RECEPTOR; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BINDING AFFINITY; CELL MEMBRANE; CELL STRAIN HEK293; CHANNEL GATING; CONTROLLED STUDY; DOSE RESPONSE; ELECTRIC CURRENT; EMBRYO; FLUORESCENCE; GENE EXPRESSION; GENE MUTATION; GENERALIZED EPILEPSY; HUMAN; HUMAN CELL; INHIBITORY POSTSYNAPTIC POTENTIAL; JUVENILE MYOCLONUS EPILEPSY; KINETICS; MYOCLONUS EPILEPSY; POSTSYNAPTIC MEMBRANE; PRIORITY JOURNAL; RECEPTOR DOWN REGULATION; SEIZURE;

AMINO ACID SUBSTITUTION; CELL LINE; CELL MEMBRANE; DOSE-RESPONSE RELATIONSHIP, DRUG; GAMMA-AMINOBUTYRIC ACID; GREEN FLUORESCENT PROTEINS; HUMANS; MEMBRANE POTENTIALS; MUTATION; MYOCLONIC EPILEPSY, JUVENILE; PATCH-CLAMP TECHNIQUES; RECEPTORS, GABA-A; TRANSFECTION;

EID: 23044441989     PISSN: 0953816X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1460-9568.2005.04168.x     Document Type: Article

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