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

INTRODUCTION: Idiopathic 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. METHODS: Whole-exome sequencing was performed in a cohort of 323 patients w...

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Detalles Bibliográficos
Autores principales: Liu, Xiao-Rong, Bian, Wen-Jun, Wang, Jie, Ye, Ting-Ting, Li, Bing-Mei, Liu, De-Tian, Tang, Bin, Deng, Wei-Wen, Shi, Yi-Wu, Su, Tao, Yi, Yong-Hong, Liao, Wei-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7597759/
https://www.ncbi.nlm.nih.gov/pubmed/33193641
http://dx.doi.org/10.3389/fgene.2020.559080

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7597759/
https://www.ncbi.nlm.nih.gov/pubmed/33193641
http://dx.doi.org/10.3389/fgene.2020.559080

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