Articles with "stxbp1 related" as a keyword



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A disease concept model for STXBP1‐related disorders

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Published in 2022 at "Epilepsia Open"

DOI: 10.1002/epi4.12688

Abstract: 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… read more here.

Keywords: disease concept; concept model; stxbp1 related; related disorders ... See more keywords