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Article

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

Cell reports - 26 Dec 2017

D'Gama Alissa M, Woodworth Mollie B, Hossain Amer A, Bizzotto Sara, Hatem Nicole E, LaCoursiere Christopher M, Najm Imad, Ying Zhong, Yang Edward, Barkovich A James, Kwiatkowski David J, Vinters Harry V, Madsen Joseph R, Mathern Gary W, Blümcke Ingmar, Poduri Annapurna, Walsh Christopher A

Abstract excerpt

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep sequencing of these genes in FCD/HME brain tissue identified an etiology in 27 of 66 cases (41%). Radiographically indistinguishable lesions are caused by somatic activating mutations in AKT3, MTOR, and PIK3CA and germline loss-of-function mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29281825
DOI: 10.1016/j.celrep.2017.11.106
PMCID: PMC5752134

Genes

AKT3
DEPDC5
MTOR
NPRL2
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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Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.PMID 29281825Read ↗

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The mTOR pathway genes <i>mTOR</i> , <i>Rheb</i> , <i>Depdc5</i> , <i>Pten</i> , and <i>Tsc1</i> have convergent and divergent impacts on cortical neuron development and functionSemantic proximity Read ↗

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