Genetic architecture and clinical features of Tourette syndrome in a child and adolescent cohort: an explorative clinical exome-based study

These findings support a dual model of genetic susceptibility in TS, where rare, high-impact exomic variants may contribute to more severe tics, cognitive impairment, and syndromic presentations, whereas polygenic inheritance mostly occurs in familial and milder forms. Incorporating exome sequencing into diagnostic workflows may enhance etiological classification and inform precision-medicine strategies for TS.