A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology

N-Methyl-D-aspartate receptors (NMDARs) are highly expressed in brain and play important roles in neurodevelopment and various neuropathologic conditions. Here, we describe a new phenotype in an individual associated with a novel de novo deleterious variant in GRIN1 (c.1595C>A, p.Pro532His). The...

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Detalles Bibliográficos
Autores principales: Zhang, Jin, Tang, Weiting, Bhatia, Nidhi K., Xu, Yuchen, Paudyal, Nabina, Liu, Ding, Kim, Sukhan, Song, Rui, XiangWei, Wenshu, Shaulsky, Gil, Myers, Scott J., Dobyns, William, Jayaraman, Vasanthi, Traynelis, Stephen F., Yuan, Hongjie, Bozarth, Xiuhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369916/
https://www.ncbi.nlm.nih.gov/pubmed/34413877
http://dx.doi.org/10.3389/fgene.2021.694312

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369916/
https://www.ncbi.nlm.nih.gov/pubmed/34413877
http://dx.doi.org/10.3389/fgene.2021.694312

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