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Article

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development

26 Oct 2023

Abstract excerpt

Background and Objectives: Somatic and germline pathogenic variants in genes of the mammalian target of rapamycin (mTOR) signaling pathway are a common mechanism underlying a subset of focal malformations of cortical development (FMCDs) referred to as mTORopathies, which include focal cortical dysplasia (FCD) type II, subtypes of polymicrogyria, and hemimegalencephaly. Our objective is to screen resected FMCD...

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PMID: 37900581
DOI: 10.1212/nxg.0000000000200103

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