Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

NMDA receptors are implicated in various neurological diseases. XiangWei et al. identify seven GRIN2D variants associated with developmental and epileptic encep

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Main Authors: XiangWei, Wenshu (Author) , Kannan, Varun (Author) , Xu, Yuchen (Author) , Kosobucki, Gabrielle J. (Author) , Schulien, Anthony J. (Author) , Kusumoto, Hirofumi (Author) , Moufawad El Achkar, Christelle (Author) , Bhattacharya, Subhrajit (Author) , Lesca, Gaetan (Author) , Nguyen, Sylvie (Author) , Helbig, Katherine L. (Author) , Cuisset, Jean-Marie (Author) , Fenger, Christina Dühring (Author) , Marjanovic, Dragan (Author) , Schuler, Elisabeth (Author) , Wu, Ye (Author) , Bao, Xinhua (Author) , Zhang, Yuehua (Author) , Dirkx, Nina (Author) , Schoonjans, An-Sofie (Author) , Syrbe, Steffen (Author) , Myers, Scott J. (Author) , Poduri, Annapurna (Author) , Aizenman, Elias (Author) , Traynelis, Stephen F. (Author) , Lemke, Johannes (Author) , Yuan, Hongjie (Author) , Jiang, Yuwu (Author)
Format: Article (Journal)
Language:English
Published: August 31, 2019
In: Brain
Year: 2019, Volume: 142, Issue: 10, Pages: 3009-3027
ISSN:1460-2156
DOI:10.1093/brain/awz232
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/brain/awz232
Verlag, lizenzpflichtig, Volltext: https://academic.oup.com/brain/article/142/10/3009/5557839
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Author Notes:Wenshu XiangWei, Varun Kannan, Yuchen Xu, Gabrielle J. Kosobucki, Anthony J. Schulien, Hirofumi Kusumoto, Christelle Moufawad El Achkar, Subhrajit Bhattacharya, Gaetan Lesca, Sylvie Nguyen, Katherine L. Helbig, Jean-Marie Cuisset, Christina Dühring Fenger, Dragan Marjanovic, Elisabeth Schuler, Ye Wu, Xinhua Bao, Yuehua Zhang, Nina Dirkx, An-Sofie Schoonjans, Steffen Syrbe, Scott J. Myers, Annapurna Poduri, Elias Aizenman, Stephen F. Traynelis, Johannes R. Lemke, Hongjie Yuan, Yuwu Jiang
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Summary:NMDA receptors are implicated in various neurological diseases. XiangWei et al. identify seven GRIN2D variants associated with developmental and epileptic encep
Item Description:Gesehen am 28.04.2020
Physical Description:Online Resource
ISSN:1460-2156
DOI:10.1093/brain/awz232