In the cerebrum of patients with tuberous sclerosis (TSC), there are three types of nodular
lesions: cortical tubers, subcortical heterotopic nodules and subependymal giant cell
astrocytomas. Histologically, these hamartias and hamartomas contain abnormal giant cells
that show evidence of abnormal differentiation of immature neural cells. Recent identification
of the TSC1 and TSC2 genes has facilitated studies of the molecular pathology of TSC. The
expression of their protein products, hamartin and tuberin, is altered in various TSC lesions …