Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance

Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance

IntroductionIdiopathic focal epilepsy (IFE) is a group of self-limited epilepsies. The etiology for the majority of the patients with IFE remains elusive. We thus screened disease-causing variants in the patients with IFE.MethodsWhole-exome sequencing was performed in a cohort of 323 patients with I...

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Bibliographic Details
Main Authors: Xiao-Rong Liu, Wen-Jun Bian, Jie Wang, Ting-Ting Ye, Bing-Mei Li, De-Tian Liu, Bin Tang, Wei-Wen Deng, Yi-Wu Shi, Tao Su, Yong-Hong Yi, Wei-Ping Liao
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-10-01
Series:Frontiers in Genetics
Subjects:
whole-exome sequencing
congenital disorder of glycosylation
immunodeficiency
PGM3 gene
idiopathic focal epilepsy
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.559080/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.559080/full

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