Article

Delineating clinical and developmental outcomes in<i>STXBP1</i>-related disorders

2023-05-11

Abstract excerpt

STXBP1 -related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental endpoints have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1,281 cumulative patient-years of seizure and developmental histories in 162 individuals with STXBP1 -related disorders an...

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Literature Corpus work: 7b3d87a3-e95e-5992-bd91-324abc01f9d0
DOI: 10.1101/2023.05.10.23289776

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