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Article

Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice.

Neurobiology of disease - 1 Nov 2016

Robens Barbara K, Grote Alexander, Pitsch Julika, Schoch Susanne, Cardoso Carlos, Becker Albert J

Abstract excerpt

Tuberous sclerosis (TSC) is a phacomatosis associated with highly differentiated malformations including tubers in the brain. Those are composed of large dysplastic neurons and 'giant cells'. Cortical tubers are frequent causes of chronic seizures and resemble neuropathologically focal cortical dysplasias (FCD) type IIb. Patients with FCDIIb, however, lack additional stigmata of TSC. Mutations and allelic...

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Source

Identifiers

PMID: 27425891
DOI: 10.1016/j.nbd.2016.07.006

Genes

TSC1

Variants

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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