Features of brain involvement in tuberous sclerosis patients in the Republic of Bashkortostan

OBJECTIVE: To identify the features of brain involvement and to characterize the genetic causes of tuberous sclerosis (TS) in patients in the Republic of Bashkortostan. MATERIAL AND METHODS: A retrospective analysis of data on patients with TS registered with geneticists of the Republican Medical Genetic Center for the period from 2012 to 2025 was performed. RESULTS: gene in 4 patients. DISCUSSION: gene mutations (one de novo) were reported. Eight patients received targeted therapy. CONCLUSION: Raising awareness of TS among physicians in all specialties is essential to ensure comprehensive case reporting. Genetic confirmation of TS enables effective treatment with mTOR inhibitors. All TS patients should consult a psychiatrist and psychologist for the diagnosis and management of intellectual disability, autism spectrum disorders, and behavioral disorders.