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Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study

Abstract Background The genetic etiology of epilepsy is highly heterogeneous and complex. Copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) have emerged as effective tools for identifying genetic causes in patients with unexplained epilepsy. This study aimed to investigate...

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Autori principali: Junji Hu, Min Xin, Jinxiu Liu, Hongxing Li, Xuemei Li, Longchang Chen, Ping Yang, Haiyan Zhao, Pengfei Sun, Guodong Gao, Hu Feng, Zhongxia Li, Guang Xiao, Yu Li, Kun Li, Xinsheng Xu
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2025-07-01
Serie:BMC Medical Genomics
Soggetti:
Epilepsy
Genetic diagnosis
Whole exome sequencing
Copy number variation sequencing
Accesso online:https://doi.org/10.1186/s12920-025-02184-7
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