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Article

Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole-exome sequencing.

Molecular genetics & genomic medicine - 1 Dec 2022

Xu Yan, Zhao Rui, Wang Min, Wang Xin-Hua, Wang Yi, Li Hao, Ma Yang-Yang, Wu Bing-Bing, Zhou Yuan-Feng

Abstract excerpt

BACKGROUND: Focal cortical dysplasia type 2 (FCD2) is a malformation of cortical development that constitutes a common cause of pediatric focal epilepsy. Germline or somatic variants in the mammalian target of rapamycin (mTOR) signaling pathway genes are the pathogenesis of FCD2. OBJECTIVE: In this study, whole-exome deep sequencing was performed on dysplastic cortex from focal epilepsy in children to explore...

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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: 36342087
DOI: 10.1002/mgg3.2086
PMCID: PMC9747558

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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