Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation

BACKGROUND: Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopathy, and cerebral palsy phenotypes. Both seizures and movement disorders can be...

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Detalles Bibliográficos
Autores principales: Lewis, Sara A., Shetty, Sheetal, Gamble, Sean, Heim, Jennifer, Zhao, Ningning, Stitt, Gideon, Pankratz, Matthew, Mangum, Tara, Marku, Iris, Rosenberg, Robert B., Wilfong, Angus A., Fahey, Michael C., Kim, Sukhan, Myers, Scott J., Appavu, Brian, Kruer, Michael C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10398931/
https://www.ncbi.nlm.nih.gov/pubmed/37537625
http://dx.doi.org/10.1186/s13023-023-02756-9

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