Recurrent seizure‐related GRIN1 variant: Molecular mechanism and targeted therapy

OBJECTIVE: Genetic variants in the GRIN genes that encode N‐methyl‐D‐aspartate receptor (NMDAR) subunits have been identified in various neurodevelopmental disorders, including epilepsy. We identified a GRIN1 variant from an individual with early‐onset epileptic encephalopathy, evaluated functional...

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Detalles Bibliográficos
Autores principales: Xu, Yuchen, Song, Rui, Chen, Wenjuan, Strong, Katie, Shrey, Daniel, Gedela, Satyanarayana, Traynelis, Stephen F., Zhang, Guojun, Yuan, Hongjie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283169/
https://www.ncbi.nlm.nih.gov/pubmed/34227748
http://dx.doi.org/10.1002/acn3.51406

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283169/
https://www.ncbi.nlm.nih.gov/pubmed/34227748
http://dx.doi.org/10.1002/acn3.51406

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