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A disease concept model for STXBP1‐related disorders

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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… Click to show full 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 families and provide a basis for generating outcome measures.

Keywords: disease concept; concept model; stxbp1 related; related disorders; model stxbp1

Journal Title: Epilepsia Open
Year Published: 2022

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