{"title":"全外显子组测序在癫痫和神经发育障碍儿童中的高遗传诊断率。","authors":"Turgay Cokyaman, Eda Gül Özcan, Nihan Ecmel Akbaş","doi":"10.1080/15513815.2024.2434919","DOIUrl":null,"url":null,"abstract":"<p><p><b>Introduction:</b> Nowadays, the diagnostic rate of childhood epilepsies is increasing rapidly in parallel with the advances in genetic technology. In this study, it was aimed to reveal the diagnostic yield of whole exome sequencing (WES) in children with epilepsy and neurodevelopmental disorders (NDDs). <b>Methods:</b> Children aged 1 to 17 years with epilepsy and NDD who underwent WES were included in this retrospective study. Demographic, epilepsy and NDD characteristics, and WES results were recorded. <b>Results:</b> WES was performed in 36.6% of cases. Various single nucleotide variants were detected in 86.3% of cases tested by WES, and the diagnostic yield on a case-by-case basis was found to be 50%. <b>Discussion:</b> The diagnostic yield of WES is quite high in children with epilepsy and NDDs without a definitive diagnosis. Revealing the genetic causes of childhood epilepsy brings up effective and individualized treatment options.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"25-39"},"PeriodicalIF":0.7000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"High Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders.\",\"authors\":\"Turgay Cokyaman, Eda Gül Özcan, Nihan Ecmel Akbaş\",\"doi\":\"10.1080/15513815.2024.2434919\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Introduction:</b> Nowadays, the diagnostic rate of childhood epilepsies is increasing rapidly in parallel with the advances in genetic technology. In this study, it was aimed to reveal the diagnostic yield of whole exome sequencing (WES) in children with epilepsy and neurodevelopmental disorders (NDDs). <b>Methods:</b> Children aged 1 to 17 years with epilepsy and NDD who underwent WES were included in this retrospective study. Demographic, epilepsy and NDD characteristics, and WES results were recorded. <b>Results:</b> WES was performed in 36.6% of cases. Various single nucleotide variants were detected in 86.3% of cases tested by WES, and the diagnostic yield on a case-by-case basis was found to be 50%. <b>Discussion:</b> The diagnostic yield of WES is quite high in children with epilepsy and NDDs without a definitive diagnosis. Revealing the genetic causes of childhood epilepsy brings up effective and individualized treatment options.</p>\",\"PeriodicalId\":50452,\"journal\":{\"name\":\"Fetal and Pediatric Pathology\",\"volume\":\" \",\"pages\":\"25-39\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Fetal and Pediatric Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/15513815.2024.2434919\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/12/8 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2024.2434919","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/8 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
High Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders.
Introduction: Nowadays, the diagnostic rate of childhood epilepsies is increasing rapidly in parallel with the advances in genetic technology. In this study, it was aimed to reveal the diagnostic yield of whole exome sequencing (WES) in children with epilepsy and neurodevelopmental disorders (NDDs). Methods: Children aged 1 to 17 years with epilepsy and NDD who underwent WES were included in this retrospective study. Demographic, epilepsy and NDD characteristics, and WES results were recorded. Results: WES was performed in 36.6% of cases. Various single nucleotide variants were detected in 86.3% of cases tested by WES, and the diagnostic yield on a case-by-case basis was found to be 50%. Discussion: The diagnostic yield of WES is quite high in children with epilepsy and NDDs without a definitive diagnosis. Revealing the genetic causes of childhood epilepsy brings up effective and individualized treatment options.
期刊介绍：
Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports.
The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
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