A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia

OBJECTIVE: N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD). In this study, we investigated the phenotype and underlying molecular mec...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Gao, Kai, Tankovic, Anel, Zhang, Yujia, Kusumoto, Hirofumi, Zhang, Jin, Chen, Wenjuan, XiangWei, Wenshu, Shaulsky, Gil H., Hu, Chun, Traynelis, Stephen F., Yuan, Hongjie, Jiang, Yuwu
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5300259/
https://ncbi.nlm.nih.gov/pubmed/28182669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0170818
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