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

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)....

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Bibliographic Details
Main Authors: Jin Zhang, Weiting Tang, Nidhi K. Bhatia, Yuchen Xu, Nabina Paudyal, Ding Liu, Sukhan Kim, Rui Song, Wenshu XiangWei, Gil Shaulsky, Scott J. Myers, William Dobyns, Vasanthi Jayaraman, Stephen F. Traynelis, Hongjie Yuan, Xiuhua Bozarth
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Genetics
Subjects:
NMDAR
GluN1
channelopathy
intellectual disability
movement disorder
positive modulators
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.694312/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.694312/full

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