Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
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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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) Editorial |
| Sprache: | Englisch |
| Veröffentlicht: |
3 October 2010
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| In: |
Nature genetics
Year: 2010, Jahrgang: 42, Heft: 11, Pages: 1021-1026 |
| ISSN: | 1546-1718 |
| DOI: | 10.1038/ng.677 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ng.677 Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ng.677 
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| Verfasserangaben: | 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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| 520 | |a 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. | ||
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