Tuberous sclerosis

P Curatolo, BL Maria - Handbook of clinical neurology, 2013 - Elsevier
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by
widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney,
lung, and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin
respectively. The hamartin–tuberin complex inhibits the mammalian-target-of-Rapamycin
(mTOR) pathway, which controls cell growth and proliferation. Variations in the distribution,
number, size, and location of lesions cause the clinical syndrome to vary even between …