New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review

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dc.authoridSüreyya Bozkurt / 0000-0002-1765-9894en_US
dc.authorscopusidSüreyya Bozkurt / 55540860700
dc.authorwosidSüreyya Bozkurt / AAP-1146-2020
dc.contributor.authorAlagöz, Meryem
dc.contributor.authorKherad, Nasim
dc.contributor.authorBozkurt, Süreyya
dc.contributor.authorYüksel, Adnan
dc.date.accessioned2020-09-24T06:45:58Z
dc.date.available2020-09-24T06:45:58Z
dc.date.issued2020en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.description.abstractPurpose: Early infantile epileptic encephalopathy (EIEE) 57 belongs to a group of encephalopathies with early-onset and characterised by severe electroencephalogram abnormalities, seizures, developmental delay and intellectual disability. Method: We carried out Whole Exome analysis using Next Generation Sequencing (NGS) and bioinformatic analysis performed to find mutation associated with the patient phenotypes. The effect of the mutation on protein structure analysed by PolyPhen2 and Swissmodel ExPASy. Results: In this study, we evaluated two unrelated Turkish males diagnosed with EIEE type 57 to investigate the genetic cause of this disease. Whole exome sequencing revealed mutations in KCN2 gene, which is a member of Potassium channels (KCN) gene family associated with epileptic encephalopathies. Two mutations, c.545A>T (p.Asn182Ile and c.2638C>A (p.Leu880Met) were reported here as a novel mutation. Conclusions: Our findings implicate the genotype-phenotype correlation of these mutations. Furthermore, the computational analysis showed their effect on protein binding site and function suggesting their role in the development of early infantile epileptic encephalopathy 57.en_US
dc.identifier.citationAlagoz, M., Kherad, N., Bozkurt, S., & Yuksel, A. (2020). New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review. Acta Biochimica Polonica.en_US
dc.identifier.doi10.18388/abp.2020_5364en_US
dc.identifier.endpage434en_US
dc.identifier.issn0001-527Xen_US
dc.identifier.issue3en_US
dc.identifier.pmid32931186en_US
dc.identifier.scopus2-s2.0-85091323967en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage431en_US
dc.identifier.urihttps://doi.org/10.18388/abp.2020_5364
dc.identifier.urihttps://hdl.handle.net/20.500.12713/1077
dc.identifier.volume67en_US
dc.identifier.wosWOS:000572533100022en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorBozkurt, Süreyya
dc.language.isoenen_US
dc.relation.ispartofActa Biochim Polen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectEIEEen_US
dc.subjectEncephalopathyen_US
dc.subjectSeizureen_US
dc.subjectNGSen_US
dc.subjectKCNT2 geneen_US
dc.subjectEpilepticen_US
dc.titleNew mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature reviewen_US
dc.typeReview Articleen_US

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