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Tuberous sclerosis complex (TSC) is a relatively common multisystem, autosomal dominant disorder. The vast majority of patients with TSC have epilepsy, which often presents in infancy as infantile spasms (IS). Cognitive impairment, autism, or both affect more than half of patients with TSC. TSC results from mutations in either the TSC1 (hamartin, chromosome 9q34) or TSC2 (tuberin, 16p13) genes.1 TSC1 and TSC2 combine to form a functional heteromeric protein complex with GTPase (GAP) activity, which inhibits the mTOR complex cell cascade, which negatively modulates cell growth. Mutations in either gene result in unrestrained cell growth leading to abnormalities of neuronal size and morphology,2 which produce the tubers that are believed to be responsible for the neurobehavioral deficits in TSC.
Like many autosomal dominant disorders, TSC exhibits pleiotropy, that is, differing phenotypes that can be variable even within families, indeed even between monozygotic twins.3 Although TSC1 and TSC2 act on the same cellular pathway, TSC2 mutations generally produce more severe neurologic disease.4–6 A major goal in TSC research is to define genotype-phenotype correlations so that prognosis regarding clinical course (phenotype) can be predicated on the basis of mutation …
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