Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

ABSTRACT:

Objective

Epilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) has emerged as a robust diagnostic tool for this condition. This study aims to evaluate the detection efficiencies of different exome-based sequencing techniques.

Methods

Exome-based epilepsy panel tests, clinical exome sequencing (CES), and whole exome sequencing (WES) were conducted on 259 pediatric patients diagnosed with epilepsy. Single-nucleotide variants (SNVs) and copy number variants (CNVs) were interpreted based on each patient's phenotypic presentation. Additionally, data concerning clinical symptoms, neuroimaging findings, treatment responses, and prognostic outcomes were collected and analyzed.

Results

The overall diagnostic yield was 32.8%

SUBMITTER: Zou H 

PROVIDER: S-EPMC11790612 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature