GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

The X-linked human glutamate receptor subunit 3 (GRIA3) gene (MIM *305915, Xq25) encodes ionotropic α amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-type glutamate receptor subunit 3, which mediates postsynaptic neurotransmission. Variants in this gene can cause a variety of neurological dis...

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Detalles Bibliográficos
Autores principales: Okano, Satomi, Makita, Yoshio, Miyamoto, Akie, Taketazu, Genya, Kimura, Kayano, Fukuda, Ikue, Tanaka, Hajime, Yanagi, Kumiko, Kaname, Tadashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892509/
https://www.ncbi.nlm.nih.gov/pubmed/36726007
http://dx.doi.org/10.1038/s41439-023-00232-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892509/
https://www.ncbi.nlm.nih.gov/pubmed/36726007
http://dx.doi.org/10.1038/s41439-023-00232-1

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