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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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2025-07-01
Edice:BMC Medical Genomics
Témata:
Epilepsy
Genetic diagnosis
Whole exome sequencing
Copy number variation sequencing
On-line přístup:https://doi.org/10.1186/s12920-025-02184-7
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