High Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders

Basit Öğe Kaydı
dc.contributor.authorCokyaman, Turgay
dc.contributor.authorOzcan, Eda Gul
dc.contributor.authorAkbas, Nihan Ecmel
dc.date.accessioned2025-01-27T20:29:09Z
dc.date.available2025-01-27T20:29:09Z
dc.date.issued2024
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractIntroduction: 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.
dc.identifier.doi10.1080/15513815.2024.2434919
dc.identifier.issn1551-3815
dc.identifier.issn1551-3823
dc.identifier.pmid39648350
dc.identifier.scopus2-s2.0-85211197429
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1080/15513815.2024.2434919
dc.identifier.urihttps://hdl.handle.net/20.500.12428/22841
dc.identifier.wosWOS:001372956100001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTaylor & Francis Inc
dc.relation.ispartofFetal and Pediatric Pathology
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectepilepsy
dc.subjectpediatric
dc.subjectgenetic testing
dc.subjectwhole exome sequencing
dc.titleHigh Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders
dc.typeArticle

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