Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains

Epilepsy and intellectual disability are associated with rare variants in the GluN2A and GluN2B (encoded by GRIN2A and GRIN2B) subunits of the N-methyl-D-aspartate receptor (NMDAR), a ligand-gated ion channel with essential roles in brain development and function. By assessing genetic variation acro...

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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Swanger, Sharon A., Chen, Wenjuan, Wells, Gordon, Burger, Pieter B., Tankovic, Anel, Bhattacharya, Subhrajit, Strong, Katie L., Hu, Chun, Kusumoto, Hirofumi, Zhang, Jing, Adams, David R., Millichap, John J., Petrovski, Slavé, Traynelis, Stephen F., Yuan, Hongjie
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2016
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5142120/
https://ncbi.nlm.nih.gov/pubmed/27839871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.10.002
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