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A gain‐of‐function GRIA2 variant associated with neurodevelopmental delay and seizures: Functional characterization and targeted treatment

α‐Amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid‐type glutamate receptors (AMPARs) are ligand‐gated cationic channels formed from combinations of GluA1‐4 subunits. Pathogenic variants of GRIA1–4 have been described in patients with developmental delay, intellectual disability, autism spectrum di...

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Detalles Bibliográficos
Autores principales:	Coombs, Ian D., Ziobro, Julie, Krotov, Volodymyr, Surtees, Taryn‐Leigh, Cull‐Candy, Stuart G., Farrant, Mark
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092096/ https://www.ncbi.nlm.nih.gov/pubmed/36161652 http://dx.doi.org/10.1111/epi.17419

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