A disease concept model for STXBP1-related disorders.

Katie R Sullivan,Sarah M Ruggiero,Julie Xian,Kim M Thalwitzer, Rahma Ali, Sydni Stewart,Mahgenn Cosico, Jackie Steinberg,James Goss,Anna C Pfalzer,Kyle J Horning,Nicole Weitzel, Sydney Corey,Laura Conway,Charlene Son Rigby,Terry Jo Bichell,Ingo Helbig

Epilepsia open（2023）

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摘要

STXBP1-related disorders are complex conditions affecting a wide range of clinical and social domains. We comprehensively mapped symptoms and their impact on families to generate a comprehensive disease model as a foundation for clinical endpoints in future trials.

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关键词

STXBP1-related disorders,developmental and epileptic encephalopathy,disease concept model,outcome measures,quality of life

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