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Article

Increased frequency of distinct TSC2 allelic variants in focal cortical dysplasias with balloon cells and mineralization.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Oct 2009

Schönberger Anna, Niehusmann Pitt, Urbach Horst, Majores Michael, Grote Alexander, Holthausen Hans, Blümcke Ingmar, Deckert Martina, Becker Albert J

Abstract excerpt

Focal cortical dysplasias with balloon cells (FCD(IIb)) usually present with characteristic imaging and molecular features, that is, a transmantle sign on fluid-attenuated inversion recovery MRI and abundance of allelic variants of the tuberous sclerosis gene 1 (TSC1). Recently, we observed several mineralized lesions (n = 5) lacking this MRI pattern and which surprisingly turned out as FCD(IIb) upon...

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Source

Identifiers

PMID: 19422538
DOI: 10.1111/j.1440-1789.2009.01018.x

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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