Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

Neurobiology of Disease

Volumn 67, Issue , 2014, Pages 88-96

  Dejanovic, Borislav ^a   Lal, Dennis ^b,c,d   Catarino, Claudia B ^e   Arjune, Sita ^a   Belaidi, Abdel A ^a   Trucks, Holger ^b,g   Vollmar, Christian ^e   Surges, Rainer ^f,g   Kunz, Wolfram S ^f,g   Motameny, Susanne ^b   Altmüller, Janine ^b   Köhler, Anna ^a   Neubauer, Bernd A ^d   EPICURE Consortium, ^g   Nürnberg, Peter ^a,b,c,g   Noachtar, Soheyl ^e   Schwarz, Günter ^a,c   Sander, Thomas ^b,g  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY HOSPITAL GIESSEN   (Germany)

^e UNIVERSITY OF MUNICH   (Germany)

^f UNIVERSITY HOSPITAL BONN   (Germany)

^g Center for Molecular Medicine ^*  (Germany)

Author keywords

Gephyrin; GPHN; Idiopathic generalized epilepsy; Microdeletion

Indexed keywords

GEPHYRIN; 4 AMINOBUTYRIC ACID RECEPTOR; CARRIER PROTEIN; MEMBRANE PROTEIN; MESSENGER RNA;

ADULT; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GABAERGIC TRANSMISSION; GENE; GENE DELETION; GENE IDENTIFICATION; GENE STRUCTURE; GENERALIZED EPILEPSY; GENETIC RISK; GENETIC VARIABILITY; GPHN GENE; HIPPOCAMPUS; HUMAN; HUMAN CELL; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON; SYNAPTIC INHIBITION; GENETICS; METABOLISM; PEDIGREE; RISK FACTOR; SYNAPSE; YOUNG ADULT;

ADULT; CARRIER PROTEINS; EPILEPSY, GENERALIZED; EXONS; FEMALE; GABAERGIC NEURONS; HUMANS; MALE; MEMBRANE PROTEINS; PEDIGREE; RISK FACTORS; RNA, MESSENGER; SEQUENCE DELETION; SYNAPSES; YOUNG ADULT;

EID: 84898860395     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2014.02.001     Document Type: Article

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