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Article

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

Nature medicine - 1 Apr 2015

Lim Jae Seok, Kim Woo-il, Kang Hoon-Chul, Kim Se Hoon, Park Ah Hyung, Park Eun Kyung, Cho Young-Wook, Kim Sangwoo, Kim Ho Min, Kim Jeong A, Kim Junho, Rhee Hwanseok, Kang Seok-Gu, Kim Heung Dong, Kim Daesoo, Kim Dong-Seok, Lee Jeong Ho

Abstract excerpt

Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and medically refractory epilepsy. It has been hypothesized that FCD is caused by somatic mutations in affected regions. Here, we used deep whole-exome sequencing (read depth, 412-668×) validated by site-specific amplicon sequencing (100-347,499×) in paired...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25799227
DOI: 10.1038/nm.3824

Genes

MTOR

Variants

Provenance

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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