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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2014
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Article
Online Erişim: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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