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

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...

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Detalles Bibliográficos
Autores principales: Xu, Yan, Zhao, Rui, Wang, Min, Wang, Xin‐hua, Wang, Yi, Li, Hao, Ma, Yang‐yang, Wu, Bing‐bing, Zhou, Yuan‐feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747558/
https://www.ncbi.nlm.nih.gov/pubmed/36342087
http://dx.doi.org/10.1002/mgg3.2086

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