Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A

Dominant mutations in the human gene GRIN2A, encoding NMDA receptor (NMDAR) subunit GluN2A, make a significant and growing contribution to the catalogue of published single-gene epilepsies. Understanding the disease mechanism in these epilepsy patients is complicated by the surprising diversity of e...

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Detalles Bibliográficos
Autores principales: Elmasri, Marwa, Hunter, Daniel William, Winchester, Giles, Bates, Ella Emine, Aziz, Wajeeha, Van Der Does, Does Moolenaar, Karachaliou, Eirini, Sakimura, Kenji, Penn, Andrew. Charles
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8885697/
https://www.ncbi.nlm.nih.gov/pubmed/35228668
http://dx.doi.org/10.1038/s42003-022-03115-3

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