L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

Pathogenic missense variants in GRIN2A and GRIN2B may result in gain or loss of function (GoF/LoF) of the N-methyl-D-aspartate receptor (NMDAR). This observation gave rise to the hypothesis of successfully treating GRIN-related disorders due to LoF variants with co-agonists of the NMDAR. In this res...

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Detalles Bibliográficos
Autores principales: Krey, Ilona, von Spiczak, Sarah, Johannesen, Kathrine M., Hikel, Christiane, Kurlemann, Gerhard, Muhle, Hiltrud, Beysen, Diane, Dietel, Tobias, Møller, Rikke S., Lemke, Johannes R., Syrbe, Steffen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130352/
https://www.ncbi.nlm.nih.gov/pubmed/34997442
http://dx.doi.org/10.1007/s13311-021-01173-9

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