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Article

Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy.

Seizure - 1 Mar 2024

Lin Zhi-Jian, Li Bin, Lin Peng-Xing, Song Wang, Yan Li-Min, Meng Heng, He Na

Abstract excerpt

PURPOSE: Idiopathic generalized epilepsies (IGEs) are a common group of genetic generalized epilepsies with high genetic heterogeneity and complex inheritance. However, the genetic basis is still largely unknown. This study aimed to explore the genetic etiologies in IGEs. METHODS: Trio-based whole-exome sequencing was performed in 60 cases with IGEs. The pathogenicity of candidate genetic variants was evaluated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36842888
DOI: 10.1016/j.seizure.2023.02.011

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