Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy

NMDA receptors (NMDAR), ligand-gated ion channels, play important roles in various neurological disorders, including epilepsy. Here we show the functional analysis of a de novo missense mutation (L812M) in a gene encoding NMDAR subunit GluN2A (GRIN2A). The mutation, identified in a patient with earl...

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Detalhes bibliográficos
Main Authors: Yuan, Hongjie, Hansen, Kasper B., Zhang, Jing, Pierson, Tyler Mark, Markello, Thomas C., Fuentes Fajardo, Karin V., Holloman, Conisha M., Golas, Gretchen, Adams, David R., Boerkoel, Cornelius F., Gahl, William A., Traynelis, Stephen F.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3934797/
https://ncbi.nlm.nih.gov/pubmed/24504326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms4251
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