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Article

Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination.

Neuron - 11 Jul 2018

Park Sang Min, Lim Jae Seok, Ramakrishina Suresh, Kim Se Hoon, Kim Woo Kyeong, Lee Junehawk, Kang Hoon-Chul, Reiter Jeremy F, Kim Dong Seok, Kim Hyongbum Henry, Lee Jeong Ho

Abstract excerpt

Focal malformations of cortical development (FMCDs), including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are major etiologies of pediatric intractable epilepsies exhibiting cortical dyslamination. Brain somatic mutations in MTOR have recently been identified as a major genetic cause of FMCDs. However, the molecular mechanism by which these mutations lead to cortical dyslamination remains poorly...

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Identifiers

PMID: 29937275
DOI: 10.1016/j.neuron.2018.05.039

Genes

MTOR

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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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