Quantitative deep motor phenotyping of 102 people with SCN2A, KCNQ2, CSNK2A1, CACNA1A or SCN8A-related disorders

Background and Objectives: Motor dysfunction is a major contributor to disability in pediatric-onset monogenic neurodevelopmental disorders (NDDs), yet systematic quantifications of motor phenotypes across development using validated clinical scales remain underdeveloped. Existing studies have classified motor phenotypes rather than quantified domain-specific severity, limiting their use as outcome measures in clinical trials. Here, we systematically quantify motor dysfunction using established clinical rating scales to explore their utility as motor endpoints. Methods: In this cross-sectional

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