Synaptic Dysfunction by Mutations in GRIN2B: Influence of Triheteromeric NMDA Receptors on Gain-of-Function and Loss-of-Function Mutant Classification

GRIN2B mutations are rare but often associated with patients having severe neurodevelopmental disorders with varying range of symptoms such as intellectual disability, developmental delay and epilepsy. Patient symptoms likely arise from mutations disturbing the role that the encoded NMDA receptor su...

Descripción completa

Detalles Bibliográficos
Autores principales: Elmasri, Marwa, Lotti, James S., Aziz, Wajeeha, Steele, Oliver G., Karachaliou, Eirini, Sakimura, Kenji, Hansen, Kasper B., Penn, Andrew C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221112/
https://www.ncbi.nlm.nih.gov/pubmed/35741674
http://dx.doi.org/10.3390/brainsci12060789

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221112/
https://www.ncbi.nlm.nih.gov/pubmed/35741674
http://dx.doi.org/10.3390/brainsci12060789

Ejemplares similares