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 endpoints have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1,281...

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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, Ben, Fitter, Nasha, Ruggiero, Sarah M., Helbig, Ingo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197795/
https://www.ncbi.nlm.nih.gov/pubmed/37215006
http://dx.doi.org/10.1101/2023.05.10.23289776
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