Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice
| Autor: | Antonela Blazekovic, Kristina Gotovac Jercic, Sarah Meglaj, Vlasta Duranovic, Igor Prpic, Bernarda Lozic, Masa Malenica, Silvana Markovic, Lucija Lujic, Zeljka Petelin Gadze, Romana Juraski, Nina Barišic, Ivo Baric, Fran Borovecki |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Epilepsy
pediatric High-Throughput Nucleotide Sequencing BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Neurologija BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Pedijatrija clinical decision making gene panel BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics Genomics and Proteomics BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Neurology Genetics BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Pediatrics Quality of Life epilepsy Humans next-generation sequencing Genetic Testing Child BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika genomika i proteomika čovjeka Genetics (clinical) Retrospective Studies |
| Zdroj: | Genes; Volume 13; Issue 8; Pages: 1466 Genes Volume 13 Issue 8 |
| ISSN: | 2073-4425 |
| Popis: | Epilepsy is one of the most common neurological disorders with diverse phenotypic characteristics and high genetic heterogeneity. Epilepsy often occurs in childhood, so timely diagnosis and adequate therapy are crucial for preserving quality of life and unhindered development of a child. Next-generation-sequencing (NGS)-based tools have shown potential in increasing diagnostic yield. The primary objective of this study was to evaluate the impact of genetic testing and to investigate the diagnostic utility of targeted gene panel sequencing. This retrospective cohort study included 277 patients aged 6 months to 17 years undergoing NGS with an epilepsy panel covering 142 genes. Of 118 variants detected, 38 (32.2%) were not described in the literature. We identified 64 pathogenic or likely pathogenic variants with an overall diagnostic yield of 23.1%. We showed a significantly higher diagnostic yield in patients with developmental delay (28.9%). Furthermore, we showed that patients with variants reported as pathogenic presented with seizures at a younger age, which led to the conclusion that such children should be included in genomic diagnostic procedures as soon as possible to achieve a correct diagnosis in a timely manner, potentially leading to better treatment and avoidance of unnecessary procedures. Describing and discovering the genetic background of the disease not only leads to a better understanding of the mechanisms of the disorder but also opens the possibility of more precise and individualized treatment based on stratified medicine. |
| Databáze: | OpenAIRE |
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