Article
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Epilepsia - 1 Feb 2013
Møller Rikke S, Weber Yvonne G, Klitten Laura L, Trucks Holger, Muhle Hiltrud, Kunz Wolfram S, Mefford Heather C, Franke Andre, Kautza Monika, Wolf Peter, Dennig Dieter, Schreiber Stefan, Rückert Ina-Maria, Wichmann H-Erich, Ernst Jan P, Schurmann Claudia, Grabe Hans J, Tommerup Niels, Stephani Ulrich, Lerche Holger, Hjalgrim Helle, Helbig Ingo, Sander Thomas
Abstract excerpt
PURPOSE: Neurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletions and point mutations of the neurexin 1 (NRXN1) gene h...
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