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A disease concept model for STXBP1‐related disorders

OBJECTIVE: STXBP1‐related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived experience of individuals and their families and provide a basis...

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Detalles Bibliográficos
Autores principales:	Sullivan, Katie R., Ruggiero, Sarah M., Xian, Julie, Thalwitzer, Kim M., Ali, Rahma, Stewart, Sydni, Cosico, Mahgenn, Steinberg, Jackie, Goss, James, Pfalzer, Anna C., Horning, Kyle J., Weitzel, Nicole, Corey, Sydney, Conway, Laura, Rigby, Charlene Son, Bichell, Terry Jo, Helbig, Ingo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235567/ https://www.ncbi.nlm.nih.gov/pubmed/36625631 http://dx.doi.org/10.1002/epi4.12688

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