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dc.contributor.authorYÜCESAN, EMRAH
dc.contributor.authorHaryanyan, Garen
dc.contributor.authorSalman, Baris
dc.contributor.authorBebek, Nerses
dc.contributor.authorUgur Iseri, Sibel Aylin
dc.contributor.authorKhalilov, Dovlat
dc.date.accessioned2023-10-10T12:45:59Z
dc.date.available2023-10-10T12:45:59Z
dc.date.issued2022
dc.identifier.citationKhalilov D., Haryanyan G., Salman B., YÜCESAN E., Ugur Iseri S. A., Bebek N., "Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.", Neurocase, cilt.28, sa.6, ss.488-492, 2022
dc.identifier.issn1355-4794
dc.identifier.othervv_1032021
dc.identifier.otherav_2564608e-5e57-4b48-bbec-758d6f500d61
dc.identifier.urihttp://hdl.handle.net/20.500.12627/190230
dc.identifier.urihttps://doi.org/10.1080/13554794.2023.2176779
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85148342415&origin=inward
dc.description.abstractDevelopmental and Epileptic Encephalopathies (DEEs) are a group of early-onset syndromic disorders characterized by varying degree of intellectual disability, autism spectrum, seizures, and developmental delay. Herein, we have clinically and genetically dissected three siblings from Turkey with DEE born to first cousin unaffected parents. We identified a homozygous pathogenic variant in ELP2 (ENST00000358232.11:c.1385G>A; p.(Arg462Gln)). Our results, together with in depth literature review, underlie the importance of codon encoding the arginine at position 462 as a hotspot for ELP2 related neurological phenotypes.
dc.language.isoeng
dc.subjectSanat ve Beşeri Bilimler (çeşitli)
dc.subjectSosyal Bilimler ve Beşeri Bilimler
dc.subjectNöroloji (klinik)
dc.subjectKlinik Tıp (MED)
dc.subjectNöroloji
dc.subjectDahili Tıp Bilimleri
dc.subjectTıp
dc.subjectKLİNİK NÖROLOJİ
dc.subjectSanat ve Beşeri Bilimler
dc.subjectKlinik Tıp
dc.subjectSanat ve Beşeri Bilimler (AHCI)
dc.subjectSağlık Bilimleri
dc.titleEpilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
dc.typeMakale
dc.relation.journalNeurocase
dc.contributor.departmentİstanbul Tıp Fakültesi , ,
dc.identifier.volume28
dc.identifier.issue6
dc.identifier.startpage488
dc.identifier.endpage492
dc.contributor.firstauthorID4255231


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