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

Abstract 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-throughpu...

Full description

Bibliographic Details
Main Authors: L. Addis, J. K. Virdee, L. R. Vidler, D. A. Collier, D. K. Pal, D. Ursu
Format: Article
Language:English
Published: Nature Publishing Group 2017-02-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-00115-w