Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridGürkan, Hakan/0000-0002-8967-6124;
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorAtli, Engin
dc.contributor.authorGurkan, Hakan
dc.contributor.authorGuldiken, Baburhan
dc.contributor.authorEker, Damla
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorDemir, Selma
dc.contributor.authorAtli, Emine Ikbal
dc.date.accessioned2024-06-12T11:19:27Z
dc.date.available2024-06-12T11:19:27Z
dc.date.issued2023
dc.departmentTrakya Üniversitesien_US
dc.description.abstractBackground: Idiopathic generalized epilepsy is the most common group of epilepsy disorders in children and adolescents. Various types of genetic abnormality were identified among the hereditary factors that explain epilepsy. Aims: To determine the variations in the etiopathogenesis, treatment protocol planning, and prognosis of idiopathic generalized epilepsy using the next-generation sequencing method.Study Design: A cross-sectional study. Methods: This study included 32 patients with idiopathic generalized epilepsy. Genomic DNA was obtained from peripheral venous blood samples taken from the patients. A total of 18 genes encoding ion channel subunits that are involved in monogenic disorders and are associated with idiopathic generalized epilepsy were included. The targeted custom next-generation sequencing panel was designed to cover all coding exons and all exon/intron splice site regions of 18 genes.Results: We detected 9 (28%) variations, including 1 likely pathogenic (a variant in the SCN1A gene) and 8 of unknown clinical significance (2 in the CLCN2 genes, GABBR2, SCN1B, SLC2A1, SLC4A10 genes, and 2 in the TBC1D24 gene).Conclusion: Study results should be supported by functional advanced studies, with increased existing knowledge in the relevant variations.en_US
dc.identifier.doi10.4274/balkanmedj.galenos.2022.2022-7-55
dc.identifier.endpage20en_US
dc.identifier.issn2146-3123
dc.identifier.issn2146-3131
dc.identifier.issue1en_US
dc.identifier.pmid36374051en_US
dc.identifier.scopus2-s2.0-85147046409en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage13en_US
dc.identifier.urihttps://doi.org/10.4274/balkanmedj.galenos.2022.2022-7-55
dc.identifier.urihttps://hdl.handle.net/20.500.14551/25193
dc.identifier.volume40en_US
dc.identifier.wosWOS:000925162900003en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofBalkan Medical Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMutationsen_US
dc.subjectVariantsen_US
dc.titleInvestigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Techniqueen_US
dc.typeArticleen_US

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