With new treatment options (e.g. mTOR inhibitors) for a variety of TSC manifestations (subependymal giant cell astrocytoma (SEGA) [26] and for adjunctive treatment of refractory partial-onset seizures, with or without generalization [27], and renal angiomyolipoma [28]) an early diagnosis and treatment will have a positive impact on the clinical course of children and adolescents with TSC. This evidence concerns the gene MTOR and tuberous sclerosis.