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

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

Gephyrin is a postsynaptic scaffolding protein, essential for the clustering of glycine and γ-aminobutyric acid type-A receptors (GABAARs) at inhibitory synapses. An impairment of GABAergic synaptic inhibition represents a key pathway of epileptogenesis. Recently, exonic microdeletions in the gephyr...

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Bibliographic Details
Main Authors: Borislav Dejanovic, Dennis Lal, Claudia B. Catarino, Sita Arjune, Abdel A. Belaidi, Holger Trucks, Christian Vollmar, Rainer Surges, Wolfram S. Kunz, Susanne Motameny, Janine Altmüller, Anna Köhler, Bernd A. Neubauer, EPICURE Consortium, Peter Nürnberg, Soheyl Noachtar, Günter Schwarz, Thomas Sander
Format: Article
Language:English
Published: Elsevier 2014-07-01
Series:Neurobiology of Disease
Subjects:
Idiopathic generalized epilepsy
Microdeletion
GPHN
Gephyrin
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996114000369

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http://www.sciencedirect.com/science/article/pii/S0969996114000369

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