Delineating clinical and developmental outcomes in STXBP1-related disorders

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STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental end points, have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1281...

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Detalles Bibliográficos
Autores principales: Xian, Julie, Thalwitzer, Kim Marie, McKee, Jillian, Sullivan, Katie Rose, Brimble, Elise, Fitch, Eryn, Toib, Jonathan, Kaufman, Michael C, deCampo, Danielle, Cunningham, Kristin, Pierce, Samuel R, Goss, James, Rigby, Charlene Son, Syrbe, Steffen, Boland, Michael, Prosser, Benjamin, Fitter, Nasha, Ruggiero, Sarah M, Helbig, Ingo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689925/
https://www.ncbi.nlm.nih.gov/pubmed/38015929
http://dx.doi.org/10.1093/brain/awad287

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689925/
https://www.ncbi.nlm.nih.gov/pubmed/38015929
http://dx.doi.org/10.1093/brain/awad287

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