Article

A disease concept model for <i>STXBP1</i>-related disorders

2022-08-06

Abstract excerpt

<h4>Objective</h4> STXBP1 -related disorders are common 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 for generating outcome measures. <h4>Methods</h4> We conducted semi-structured, qualitative interviews wi...

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Literature Corpus work: 62f60352-8995-5ce5-bcf2-586b2f3293a8
DOI: 10.1101/2022.08.05.22278197

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