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Article

Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

European journal of human genetics : EJHG - 1 Dec 2016

Overwater Iris E, Swenker Rob, van der Ende Emma L, Hanemaayer Kimberley Bm, Hoogeveen-Westerveld Marianne, van Eeghen Agnies M, Lequin Maarten H, van den Ouweland Ans Mw, Moll Henriëtte A, Nellist Mark, de Wit Marie-Claire Y

Abstract excerpt

Structural brain malformations associated with Tuberous Sclerosis Complex (TSC) are related to the severity of the clinical symptoms and can be visualized by magnetic resonance imaging (MRI). Tuberous Sclerosis Complex is caused by inactivating TSC1 or TSC2 mutations. We investigated associations between TSC brain pathology and different inactivating TSC1 and TSC2 variants, and examined the potential prognostic...

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Source

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Identifiers

PMID: 27406250
DOI: 10.1038/ejhg.2016.85
PMCID: PMC5117934

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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