Clinical application of whole-exome sequencing analysis in childhood epilepsy

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dc.authoridTEKES, SELAHADDIN/0000-0001-6405-1112
dc.authoridASLAN, ELIF SIBEL/0000-0002-3081-9004
dc.contributor.authorGavaz, Meral
dc.contributor.authorAslan, Elif S.
dc.contributor.authorTekes, Selahattin
dc.date.accessioned2025-02-22T14:08:57Z
dc.date.available2025-02-22T14:08:57Z
dc.date.issued2024
dc.departmentDicle Üniversitesien_US
dc.description.abstractThe swift updates of public databases and advancements in next-generation sequencing (NGS) technologies have enhanced the genetic identification capacities of epilepsy clinics. This study aimed to evaluate the diagnostic efficacy of NGS in pediatric epilepsy patients as a whole and to present the data obtained in the whole exome sequence analysis. We enrolled 40 children with suspected childhood epilepsy in this study. All patients underwent evaluation by a clinical geneticist or pediatric neurologist and the molecular genetic analysis of those children was performed by whole-exome sequencing (WES). Out of the 40 patients, 12 (30%) received a genetic diagnosis, involving 14 mutations across 13 genes. The cumulative positive diagnostic yield was 30%. Twelve of these patients were identified to have 5 variants previously documented as pathogenic, 9 variants classified as likely pathogenic, and 5 novel variants that have not been reported before. The outcomes indicate that whole-exome sequencing offers great benefits in clinical patient diagnosis, particularly in terms of detecting diagnostic variants. This study underscored the significance of whole exome sequencing (WES) studies, where only a broad gene set is examined in epilepsy patients. This approach has the potential to establish gene-specific phenotypic profiles, particularly by uncovering novel candidate genes in epilepsy patients with well-defined phenotypes. Additionally, conducting validation studies on variants of uncertain clinical significance could enhance the outcome yield.en_US
dc.identifier.doi10.1080/01677063.2024.2434869
dc.identifier.issn0167-7063
dc.identifier.issn1563-5260
dc.identifier.pmid39654149en_US
dc.identifier.scopus2-s2.0-85211323935en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.urihttps://doi.org/10.1080/01677063.2024.2434869
dc.identifier.urihttps://hdl.handle.net/11468/29731
dc.identifier.wosWOS:001372940300001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherTaylor & Francis Ltden_US
dc.relation.ispartofJournal of Neurogeneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmzKA_WOS_20250222
dc.subjectEpilepsyen_US
dc.subjectdiagnostic yielden_US
dc.subjectwhole-exome sequencingen_US
dc.subjectgene panelsen_US
dc.subjectpathogenicen_US
dc.subjectgeneticsen_US
dc.titleClinical application of whole-exome sequencing analysis in childhood epilepsyen_US
dc.typeArticleen_US

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