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ORIGINAL RESEARCH article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1496411

Diagnostic Efficiency of Exome-Based Sequencing in Pediatric Patients with Epilepsy

Provisionally accepted
Huafang Zou Huafang Zou 1Qian Zhang Qian Zhang 2JIANXIANG LIAO JIANXIANG LIAO 1Dongfang Zou Dongfang Zou 3Zhanqi Hu Zhanqi Hu 3Bing Li Bing Li 3Li Chen Li Chen 3Jialun Wen Jialun Wen 3Xia Zhao Xia Zhao 3Victor, Wei Zhang Victor, Wei Zhang 2Dezhi Cao Dezhi Cao 4*
  • 1 Department of Neurology, Division of Epilepsy Surgery, Shenzhen Children's Hospital, Shenzhen, China
  • 2 AmCare Genomics Lab, Guangzhou, China
  • 3 Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China
  • 4 Department of Neurology，Division of Epilepsy Surgery, Shenzhen Children's Hospital, Shenzhen, China

The final, formatted version of the article will be published soon.

    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.The overall diagnostic yield was 32.8% (85/259), with a diagnostic yield of 40.0% for exome-based epilepsy panels, 30.1% for CES, and 27.8% for WES. We identified 82 cases with pathogenic or likely pathogenic SNVs and 4 cases with pathogenic CNVs, of which one case with both SNV and CNV. The most frequently detected gene was PRRT2, present in 10.0% (9/82) of cases. Epileptic syndromes were diagnosed in 66 patients, predominantly West Syndrome, Dravet Syndrome and Genetic Epilepsy with Febrile Seizures plus.NGS is an effective method for uncovering the genetic foundations of pediatric epilepsy, with diagnostic yields varying based on the sequencing approach used. The growing preference for WES underscores its utility in complex cases, pointing to a trend towards more tailored diagnostic strategies.

    Keywords: Epilepsy, seizure, next generation sequencing, whole exome sequencing, genetic diagnosis

    Received: 24 Sep 2024; Accepted: 11 Dec 2024.

    Copyright: © 2024 Zou, Zhang, LIAO, Zou, Hu, Li, Chen, Wen, Zhao, Zhang and Cao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Dezhi Cao, Department of Neurology，Division of Epilepsy Surgery, Shenzhen Children's Hospital, Shenzhen, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.