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 the genetic etiology, evaluate the diagnostic utility of concurrent CNV-seq and WES, and provide evidence for precision medicine and genetic counseling.

Methods

We conducted a retrospective cohort study of 283 patients with unexplained epilepsy undergoing WES and 228 patients undergoing CNV-seq, with partial cohort overlap (n = 228). The diagnostic efficiency, its correlation with demographic information, and the clinical impacts of gene diagnostic results on clinical decision-making were

SUBMITTER: Hu J 

PROVIDER: S-EPMC12261757 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature