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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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia: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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