Customised targeted massively parallel sequencing enables more precisely diagnosis of patients with epilepsy

Basit Öğe Kaydı
dc.authoridKalkan, Rasime/0000-0002-6095-7352
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authorwosidKalkan, Rasime/X-4808-2019
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorAtli, Engin
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorDemir, Selma
dc.contributor.authorKalkan, Rasime
dc.contributor.authorEker, Damla
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T11:08:41Z
dc.date.available2024-06-12T11:08:41Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractBackground Advancement in genetic technology has led to the identification of an increasing number of genes in epilepsy. This will provide a lot of information in clinical practice and improve the diagnosis and treatment of epilepsy. Aim To show the importance of genes in the next-generation sequencing (NGS) panel during the evaluation of epilepsy and to emphasise the importance of genetic studies in different populations for the evaluation of genes that cause disease. Methods This was a single-centre retrospective cohort study of 80 patients who underwent NGS testing with a customised epilepsy panel. Results In a total of 54 (67.5%) out of 80 patients, pathogenic or likely pathogenic variants and variants of uncertain significance (VOUS) were identified according to the American College of Medical Genetics and Genomics criteria. Pathogenic or likely pathogenic variants (n = 35) were identified in 29 (36.25%) out of 80 individuals. VOUS (n = 34) were identified in 28 (35%) out of 80 patients. Pathogenic, likely pathogenic and VOUS were most frequently identified in TSC2 (n = 11), SCN1A (n = 6) and TSC1 (n = 5) genes. Other common genes were KCNQ2 (n = 3), AMT (n = 3), CACNA1H (n = 3), CLCN2 (n = 3), MECP2 (n = 2), ASAH1 (n = 2) and SLC2A1 (n = 2). Conclusions NGS-based testing panels contribute to the diagnosis of epilepsy and might change the clinical management by preventing unnecessary and potentially harmful diagnostic procedures and management in patients. Thus, our results highlight the benefit of genetic testing in children suffering with epilepsy.en_US
dc.identifier.doi10.1111/imj.15219
dc.identifier.endpage1184en_US
dc.identifier.issn1444-0903
dc.identifier.issn1445-5994
dc.identifier.issue7en_US
dc.identifier.pmid33528079en_US
dc.identifier.scopus2-s2.0-85119604640en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage1174en_US
dc.identifier.urihttps://doi.org/10.1111/imj.15219
dc.identifier.urihttps://hdl.handle.net/20.500.14551/22523
dc.identifier.volume52en_US
dc.identifier.wosWOS:000802888200001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofInternal Medicine Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMolecular Geneticsen_US
dc.subjectEpilepsyen_US
dc.subjectNGSen_US
dc.subjectGeneticsen_US
dc.subjectRisken_US
dc.titleCustomised targeted massively parallel sequencing enables more precisely diagnosis of patients with epilepsyen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu

We collect and process your personal information for the following purposes: Authentication, Preferences, Acknowledgement and Statistics.
To learn more, please read our privacy policy.

Customize