of the vaste majority of children with tuberous sclerosis have a germline pathogenetic variant in tuberous sclerosis genes (TSC1 or TSC2), that increase the risk of developing subependymal giant cell astrocytomas,subependymal nodules and cortical tubers, as some pathogenetic variants in these genes lead to mTOR pathway activation (173). The gene discussed is MTOR; the disease is tuberous sclerosis.