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- W2097141998 abstract "Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with variable phenotypic expression, due to a mutation in one of the two genes, TSC1 and TSC2, and a subsequent hyperactivation of the downstream mTOR pathway, resulting in increased cell growth and proliferation. The central nervous system is consistently involved in TSC, with 90% of individuals affected showing structural abnormalities, and almost all having some degree of CNS clinical manifestations, including seizures, cognitive impairment and behavioural problems. TSC is proving to be a particularly informative model for studying contemporary issues in developmental neurosciences. Recent advances in the neurobiology of TSC from molecular biology, molecular genetics, and animal model studies provide a better understanding of the pathogenesis of TSC-related neurological symptoms. Rapamycin normalizes the dysregulated mTOR pathway, and recent clinical trials have demonstrated its efficacy in various TSC manifestations, suggesting the possibility that rapamycin may have benefit in the treatment of TSC brain disease." @default.
- W2097141998 created "2016-06-24" @default.
- W2097141998 creator A5056942303 @default.
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- W2097141998 creator A5081255561 @default.
- W2097141998 date "2009-02-01" @default.
- W2097141998 modified "2023-10-02" @default.
- W2097141998 title "Recent advances in neurobiology of Tuberous Sclerosis Complex" @default.
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- W2097141998 doi "https://doi.org/10.1016/j.braindev.2008.09.013" @default.
- W2097141998 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19028034" @default.