Article

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

2022-08-23

Abstract excerpt

<h4>Background: </h4> Objective Focal cortical dysplasia type 2 (FCD2) is malformations 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 pathogenesis of FCD2. In this study, whole-exome deep sequencing was performed on dysplastic cortex from focal epilepsy in children to explore...

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Literature Corpus work: 7a3e6155-a3ef-5105-bde9-a10b1800ee52
DOI: 10.21203/rs.3.rs-1971569/v1

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