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The Tuberous Sclerosis Complex
Abstract
The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder affecting children and adults, results from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin). In this article, the current knowledge of the pathogenesis of the disease and its management are discussed.
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“Tuberous sclerosis complex (TSC) is a genetic neurodevelopmental disorder characterized by focal brain malformations called cortical tubers, which are associated with severe, intractable epilepsy1.”
From mTORC1 drives cell-autonomous astrocyte reactivity in tuberous sclerosis (2026) · cites this paper as [1]
In the citing paper
“TSC leads to hamartomas in several organs and a constellation of neurological and psychiatric conditions, including severe, early-onset epilepsy1.”
From mTORC1 drives cell-autonomous astrocyte reactivity in tuberous sclerosis (2026) · cites this paper as [1]
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Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
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Metadata
- Authors
- Crino, P. B., Nathanson, K. L., & Henske, E. P.
- Affiliations
- University of Pennsylvania Health System (US)
- University of Pennsylvania (US)
- Fox Chase Cancer Center (US)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2006-09-28
- Volume
- 355
- Issue
- 13
- Pages
- 1345-1356
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2383259826
- Cited by
- 1,793
- References
- 98
- Citations by year
- 2026: 39 · 2025: 61 · 2024: 73 · 2023: 61 · 2022: 79 · 2021: 96 · 2020: 94 · 2019: 67 · 2018: 95 · 2017: 101 · 2016: 102 · 2015: 109 · 2014: 119 · 2013: 146 · 2012: 129
- FWCI
- 7.94
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (HL60746, R01HL060746)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-51052)
- National Institute of Neurological Disorders and Stroke (NS045021, R01NS045021)
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Tuberous Sclerosis Complex Research
- Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
- Keywords
- tuberous sclerosis complex, TSC1, hamartin, TSC2, tuberin, autosomal dominant disorder, pathogenesis, disease management, multisystem disease
- MeSH terms
- Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Estrogens, Female, Humans, Genetic Linkage, Male, Mutation, Protein Kinases, Tuberous Sclerosis, Signal Transduction, Tumor Suppressor Proteins, TOR Serine-Threonine Kinases
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