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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

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Kerstin Kutsche and colleagues report that mutations in GRIN2A and GRIN2B cause variable neurodevelopmental phenotypes including mental retardation and epilepsy. GRIN2A and GRIN2B encode regulatory subunits of N-methyl-D-aspartate (NMDA) receptors, which mediate excitatory neurotransmission in the b...

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Main Authors: Endele, Sabine (Author) , Rosenberger, Georg (Author) , Geider, Kirsten (Author) , Popp, Bernt (Author) , Tamer, Ceyhun (Author) , Stefanova, Irina (Author) , Milh, Mathieu (Author) , Kortüm, Fanny (Author) , Fritsch, Angela (Author) , Pientka, Friederike K. (Author) , Hellenbroich, Yorck (Author) , Kalscheuer, Vera M. (Author) , Kohlhase, Jürgen (Author) , Moog, Ute (Author) , Rappold, Gudrun (Author) , Rauch, Anita (Author) , Ropers, Hans-Hilger (Author) , von Spiczak, Sarah (Author) , Tönnies, Holger (Author) , Villeneuve, Nathalie (Author) , Villard, Laurent (Author) , Zabel, Bernhard (Author) , Zenker, Martin (Author) , Laube, Bodo (Author) , Reis, André (Author) , Wieczorek, Dagmar (Author) , Van Maldergem, Lionel (Author) , Kutsche, Kerstin (Author)
Format: Article (Journal) Editorial
Language:English
Published: 3 October 2010
In: Nature genetics
Year: 2010, Volume: 42, Issue: 11, Pages: 1021-1026
ISSN:1546-1718
DOI:10.1038/ng.677
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ng.677
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ng.677
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Author Notes:Sabine Endele, Georg Rosenberger, Kirsten Geider, Bernt Popp, Ceyhun Tamer, Irina Stefanova, Mathieu Milh, Fanny Kortüm, Angela Fritsch, Friederike K. Pientka, Yorck Hellenbroich, Vera M. Kalscheuer, Jürgen Kohlhase, Ute Moog, Gudrun Rappold, Anita Rauch, Hans-Hilger Ropers, Sarah von Spiczak, Holger Tönnies, Nathalie Villeneuve, Laurent Villard, Bernhard Zabel, Martin Zenker, Bodo Laube, André Reis, Dagmar Wieczorek, Lionel Van Maldergem & Kerstin Kutsche
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Summary:Kerstin Kutsche and colleagues report that mutations in GRIN2A and GRIN2B cause variable neurodevelopmental phenotypes including mental retardation and epilepsy. GRIN2A and GRIN2B encode regulatory subunits of N-methyl-D-aspartate (NMDA) receptors, which mediate excitatory neurotransmission in the brain.
Item Description:Gesehen am 16.03.2023
Physical Description:Online Resource
ISSN:1546-1718
DOI:10.1038/ng.677

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