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Article

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.

Annals of clinical and translational neurology - 1 Feb 2021

Lee Wei Shern, Baldassari Sara, Chipaux Mathilde, Adle-Biassette Homa, Stephenson Sarah E M, Maixner Wirginia, Harvey A Simon, Lockhart Paul J, Baulac Stéphanie, Leventer Richard J

Abstract excerpt

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain-specific somatic Ras homolog enriched in brain (RHEB) variants. The somatic variant load directly correlated with the size of the malformation, with upregulated mTOR activity confirmed in dysplastic...

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Identifiers

PMID: 33434304
DOI: 10.1002/acn3.51286
PMCID: PMC7886042

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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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