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Article

Molecular pathogenesis of tuber formation in tuberous sclerosis complex.

Journal of child neurology - 1 Sept 2004

Crino Peter B

Abstract excerpt

Tuberous sclerosis complex results from mutations in the TSC1 (hamartin) and TSC2 (tuberin) genes. Tubers are cortical developmental malformations in patients with tuberous sclerosis complex that are associated with intractable epilepsy and are composed of histologically distinct cell types, including giant cells and dysplastic neurons. We recently showed that tubers can be dynamic lesions characterized by...

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Source

Identifiers

PMID: 15563019
DOI: 10.1177/08830738040190091301

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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