Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights

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dc.contributor.authorYis, Uluc
dc.contributor.authorBecker, Kerstin
dc.contributor.authorKurul, Semra Hiz
dc.contributor.authorUyanik, Goekhan
dc.contributor.authorBayram, Erhan
dc.contributor.authorHaliloglu, Goknur
dc.contributor.authorPolat, Ayse Ipek
dc.contributor.authorAyanoglu, Muge
dc.contributor.authorOkur, Derya
dc.contributor.authorTosun, Ayse Fahriye
dc.contributor.authorSerdaroglu, Gul
dc.contributor.authorYilmaz, Sanem
dc.contributor.authorTopaloglu, Haluk
dc.contributor.authorAnlar, Banu
dc.contributor.authorCirak, Sebahattin
dc.contributor.authorEngel, Andrew G.
dc.date.accessioned2019-10-27T11:07:07Z
dc.date.available2019-10-27T11:07:07Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractCongenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylul University, Izmir, Turkey. In addition, PubMed was searched for published cases of genetically proven congenital myasthenic syndromes originating from Turkey. In total, the authors identified 43 (8 new patients, 35 recently published patients) cases. Defects in the acetylcholine receptor (n = 15; 35%) were the most common type, followed by synaptic basal-lamina associated (n = 14; 33%) and presynaptic syndromes (n = 10; 23%). The authors had only 3 cases (7%) who had defects in endplate development. One patient had mutation GFPT1 gene (n = 1; 2%). Knowledge on congenital myasthenic syndromes and related genes in Turkey will lead to prompt diagnosis and treatment of these rare neuromuscular disorders.en_US
dc.description.sponsorshipNIHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [NS6277]; German Research Foundation (DFG) (Emmy Noether Arbeitsgruppe)en_US
dc.description.sponsorshipThe authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Genetic studies performed in AGE's laboratory were supported by NIH Grant NS6277. SC is funded by the German Research Foundation (DFG) (Emmy Noether Arbeitsgruppe).en_US
dc.identifier.doi10.1177/0883073817705252en_US
dc.identifier.endpage765en_US
dc.identifier.issn0883-0738
dc.identifier.issn1708-8283
dc.identifier.issue8en_US
dc.identifier.pmid28464723en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage759en_US
dc.identifier.urihttps://doi.org/10.1177/0883073817705252
dc.identifier.urihttps://hdl.handle.net/11454/31979
dc.identifier.volume32en_US
dc.identifier.wosWOS:000404044200010en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSage Publications Incen_US
dc.relation.ispartofJournal of Child Neurologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectcongenital myasthenic syndromesen_US
dc.subjectgenetic diagnosisen_US
dc.subjectTurken_US
dc.titleGenetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insightsen_US
dc.typeArticleen_US

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