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What is Triad of Tuberous Sclerosis includes all, except: and explain in detail?
Diagnostic triad of Tuberous sclerosis includes epilepsy, mental retardation and adenoma sebaceum (facial angiofibroma). Tuberous sclerosis (TS) is an autosomal dominant disorder which result from mutations in either the TSC1 gene encoding hamain or the TSC2 gene encoding tuberin. Hamain and tubulin form a complex which negatively regulate cell growth and proliferation through inhibition of mTOR. Ref: Harrison's Internal Medicine, 18th Edition, Chapter 284; The 5-Minute Neurology Consult By D. Joanne Lynn, Page 430; Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics By David J. Kwiatkowsk, Page 221