Tuberous Sclerosis

S. P. Sparagana, E. S. Roach

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


Tuberous sclerosis complex (TSC) is a neurocutaneous disorder caused by mutations in one of two different genes called. TSC1 and. TSC2. The protein products of these genes, hamartin and tuberin, are involved in a complicated schema of normal cell signaling pathways. A mutation in either TSC gene disrupts these pathways, resulting in alteration in cellular differentiation, growth, and proliferation. As a consequence, typically benign lesions and tumors may develop in many organ systems, including brain, skin, kidney, eyes, heart, and lungs. Surveillance monitoring for potential complications in these organs can help minimize the morbidity of the disease. New treatments based on knowledge of the molecular pathogenesis of TSC are being developed.

Original languageEnglish (US)
Title of host publicationEncyclopedia of Neuroscience
PublisherElsevier Ltd
Number of pages7
ISBN (Print)9780080450469
StatePublished - Jan 1 2009


  • Autism
  • Cortical tuber
  • Epilepsy
  • Facial angiofibroma
  • Hamartoma
  • Hypomelanotic macule
  • Mental retardation
  • Neurocutaneous disorder
  • Renal angiomyolipoma
  • Subependymal giant cell astrocytoma (SEGA)
  • Subependymal nodules
  • Tuberous sclerosis complex (TSC)

ASJC Scopus subject areas

  • Neuroscience(all)


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