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

• DOI: 10.3389/fgene.2024.1496411
• Publication Date: 2025-01-21T08:37:48Z
• Authors: Huafang Zou; Qian Zhang; Jianxiang Liao; Dongfang Zou; Zhanqi Hu; Bing Li; Li Chen; Jialun Wen; Xia Zhao; Victor Wei Zhang; Dezhi Cao
• Keywords: Dravet syndrome; Epilepsy syndromes; Exome; Etiology

Objective Epilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) emerged as robust diagnostic tool for this condition. This study aims to evaluate the detection efficiencies of different exome-based techniques. Methods Exome-based epilepsy panel tests, clinical exome (CES), and whole (WES) were conducted on 259 pediatric patients diagnosed with epilepsy. Single-nucleotide variants (SNVs) copy number (CNVs) interpreted based each patient’s phenotypic presentation. Additionally, data concerning symptoms, neuroimaging findings, treatment responses, prognostic outcomes collected analyzed. Results The overall yield was 32.8% (85/259), 40.0% panels, 30.1% CES, 27.8% WES. We identified 82 cases pathogenic or likely SNVs 4 CNVs, which one case both SNV CNV. most frequently detected gene PRRT2, present in 10.0% (9/82) cases. Epileptic syndromes 66 patients, predominantly West Syndrome, Dravet Syndrome Genetic Epilepsy Febrile Seizures plus. Conclusion NGS is an effective method uncovering genetic foundations epilepsy, yields varying approach used. growing preference WES underscores its utility complex cases, pointing trend towards more tailored strategies.