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ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Pediatric Neurology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1471965
Evaluation of the Etiology of Epilepsy and/or Developmental Delay in Children via Next-Generation Sequencing: a Single-Center Experience
Provisionally accepted- 1 Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye
- 2 Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye
- 3 Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye
- 4 Department of Transitional Medicine, Health Sciences Institute, Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye
- 5 Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye
- 6 Department of Genome Studies, Health Sciences Institute, Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye
- 7 Division of Neurology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye
We aimed to understand the genetic etiology in children presenting with epilepsy and/or developmental delay by using next-generation sequencing (NGS).We included children presenting to our pediatric neurology clinic with a diagnosis of epilepsy and/or developmental delay between January 2019 and December 2021. We evaluated the patients using the NGS equipment in our genetic laboratory.Results: In total, 90 patients were included in the study. Twenty (34.4%) out of 58 patients who had undergone whole-exome sequencing (WES) had pathogenic or likely pathogenic (P/LP) variants and 11 (18.9%) had variants of unknown significance (VUS). Five (41.6%) out of 12 patients who had undergone whole-genome sequencing had P/LP variants and 5 (41.6%) had VUS. Eleven (55%) out of 20 patients who had undergone WES and chromosomal microarray had P/LP variants and 2 (10%) had VUS. Twenty-six novel variants were described. Twelve patients (13.3%) were diagnosed using a known specific treatment.NGS aids in precisely diagnosing children with epilepsy and/or developmental delay. Furthermore, it provides a correct prognosis, specific treatment methods, and a multidisciplinary approach.
Keywords: Epilepsy, developmental delay, Next-generation sequencing, pediatric neurology, pediatric geneticist
Received: 28 Jul 2024; Accepted: 28 Jan 2025.
Copyright: © 2025 Kava, Akgun Dogan, Yesilyurt, ALANAY and Işık. 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:
YASEMIN ALANAY, Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye
Uğur Işık, Division of Neurology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye
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