Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency – molecular profiling and functional rescue

Mutations in the N-methyl-D-aspartate receptor (NMDAR) gene GRIN2A cause epilepsy-aphasia syndrome (EAS), a spectrum of epileptic, cognitive and language disorders. Using bioinformatic and patient data we shortlisted 10 diverse missense mutations for characterisation. We used high-throughput calcium...

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Detalles Bibliográficos
Autores principales: Addis, L., Virdee, J. K., Vidler, L. R., Collier, D. A., Pal, D. K., Ursu, D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427847/
https://www.ncbi.nlm.nih.gov/pubmed/28242877
http://dx.doi.org/10.1038/s41598-017-00115-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427847/
https://www.ncbi.nlm.nih.gov/pubmed/28242877
http://dx.doi.org/10.1038/s41598-017-00115-w

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