The high frequency of chromosomal copy number variations and candidate genes in epilepsy patients

Basit Öğe Kaydı
dc.contributor.authorAlbuz, Burcu
dc.contributor.authorÖzdemir, Öztürk
dc.contributor.authorSılan, Fatma
dc.date.accessioned2025-01-27T18:53:25Z
dc.date.available2025-01-27T18:53:25Z
dc.date.issued2021
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractOBJECTIVE: Epilepsy is a chronic brain disease and is estimated to affect more than 50 million people worldwide.Epilepsy is a polygenic and multifactorial disease.Genetic causes play a major role in 40–60 % of all epilepsies.Copy number variations(CNVs) have been reported in approximately 5–12 % of patients with different types of epilepsy.Here we aimed to determine the diagnostic yield of the aCGH in epilepsy and to reveal new candidate genes and CNVs by analyzing aCGH data retrospectively. METHODS: The clinical data of 80 patients with the diagnosis of epilepsy were examined retrospectively and the raw data of aCGH of these patients were reanalyzed in the light of current literature. RESULTS: Pathogenic/likely pathogenic CNVs were detected in 14 of 80 patients and 12 of these CNVs (15 %) were associated with epilepsy phenotype. In addition, 18 CNVs in 16 different chromosomal loci that were evaluated as the variant of unknown clinical significance(VOUS). In four cases (5%), CNVs associated with epilepsy were less than 100 kb and these accounted for 13.3 % of all epilepsy associated CNVs. CONCLUSION: The diagnostic yield of aCGH in epilepsy patients was found to be higher than most studies in the literature. MACROD2,ADGRB3(BAI3),SOX8,HIP1,PARK2 and TAFA2 genes were evaluated as potential epilepsy-related genes and NEDD9,RASAL2 and TNR genes thought to be the candidate genes for epilepsy. Our study showed that the diagnostic efficiency of aCGH in epilepsy is high and with more comprehensive studies, it will contribute to the elucidation of genes involved in genetic etiology in epilepsy patients. © 2021
dc.identifier.doi10.1016/j.clineuro.2021.106487
dc.identifier.issn0303-8467
dc.identifier.pmid33484953
dc.identifier.scopus2-s2.0-85100142098
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1016/j.clineuro.2021.106487
dc.identifier.urihttps://hdl.handle.net/20.500.12428/12711
dc.identifier.volume202
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier B.V.
dc.relation.ispartofClinical Neurology and Neurosurgery
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_Scopus_20250125
dc.subjectaCGH; Copy number variation; Epilepsy; Microarray; Seizure
dc.titleThe high frequency of chromosomal copy number variations and candidate genes in epilepsy patients
dc.typeArticle

Dosyalar

Koleksiyon

Scopus İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu