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Article

Distinct allelic variants of TSC1 and TSC2 in epilepsy-associated cortical malformations without balloon cells.

Journal of neuropathology and experimental neurology - 1 Jul 2005

Majores Michael, Blümcke Ingmar, Urbach Horst, Meroni Alessandra, Hans Volkmar, Holthausen Hans, Elger Christian E, Schramm Johannes, Galli Carlo, Spreafico Roberto, Wiestler Otmar D, Becker Albert J

Abstract excerpt

Epilepsy-associated malformations of cortical development (MCDs) comprise a variety of dysplastic and neoplastic lesions of yet undetermined molecular pathology. Histopathologic similarities between MCDs and dysplastic brain lesions in the autosomal inherited neurocutaneous phacomatosis tuberous sclerosis (TSC), which affects the TSC1 and/or TSC2 genes, suggest common pathogenetic mechanisms. Previous studies...

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Source

Identifiers

PMID: 16042315
DOI: 10.1097/01.jnen.0000171651.32460.19

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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