Three-Dimensional Gait Analysis in STXBP1-Related Disorder

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04 Nov 2026 0 comments

BACKGROUND AND OBJECTIVES: STXBP1-related disorder (STXBP1-RD), caused by pathogenic variants in the STXBP1 gene, is a rare neurodevelopmental condition, characterized by early-onset seizures, developmental delay, intellectual disability (ID), and prominent motor dysfunction. Despite the high prevalence of motor symptoms, systematic gait characterization remains limited. The aim of this study was therefore to quantitatively assess gait in participants with STXBP1-RD.