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Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy

The N-methyl-d-aspartate receptor (NMDAR), a ligand-gated ionotropic glutamate receptor, plays important roles in normal brain development and a wide range of neurologic disorders, including epilepsy. Here, we evaluate for the first time the functional properties of a de novo GRIN2A missense mutatio...

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Detalhes bibliográficos
Publicado no:Mol Pharmacol
Main Authors: Chen, Wenjuan, Tankovic, Anel, Burger, Pieter B., Kusumoto, Hirofumi, Traynelis, Stephen F., Yuan, Hongjie
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society for Pharmacology and Experimental Therapeutics 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5363715/
https://ncbi.nlm.nih.gov/pubmed/28126851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1124/mol.116.106781
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