Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/37263
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dc.contributor.authorGüngör, Gülay-
dc.contributor.authorGüngör, Olcay-
dc.contributor.authorÇakmaklı, S.-
dc.contributor.authorMaraş Genç, H.-
dc.contributor.authorİnce, H.-
dc.contributor.authorYeşil, G.-
dc.contributor.authorDilber, C.-
dc.date.accessioned2021-02-02T09:24:47Z
dc.date.available2021-02-02T09:24:47Z
dc.date.issued2020-
dc.identifier.issn0256-7040-
dc.identifier.urihttps://hdl.handle.net/11499/37263-
dc.identifier.urihttps://doi.org/10.1007/s00381-019-04334-6-
dc.description.abstractPurpose: The goal of this study was to better understand vanishing white matter (VWM) disease, which is one of the most common hereditary white matter disorders, and its relationship to radiologic features, genetic analyses, and clinical findings. Methods: We performed a study on 11 patients to describe the clinical and neuroimaging features of VWM. Patients were grouped into “infantile,” “early childhood,” and “juvenile” based on their onset age. EIF2B1–5 genes encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B) were analyzed in all patients with clinically suspected VWM disease. Results: In brain magnetic resonance imaging (MRI), all patients showed white matter abnormalities with various degrees. The initial clinical presentation in five of patients was ataxia, with severe refractory epilepsy in three patients. In children with infantile-onset VWM, a rapid deterioration of motor function was detected, and the frequency of epilepsy was higher. Two patients showed manifestations of end-stage VWM disease, and one of them had chronic subdural hematoma. One of our patients and his father were diagnosed with Brugada syndrome. Sequencing of the exons and exon-intron boundaries of the EIF2B1–5 genes revealed mutations in the genes EIF2B5 (5 cases), EIF2B3 (3 cases), and EIF2B4 (2 cases). We also found a novel mutation in one patient: c.323_325delGAA in the EIF2B1 gene. Conclusions: In this study, in addition to classical clinical and radiological findings, we wanted to emphasize that we may be confronted with refractory epilepsy (early infancy), cardiac problems, and intracranial complications that may occur in advanced stages. © 2019, Springer-Verlag GmbH Germany, part of Springer Nature.en_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofChild's Nervous Systemen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBrugada syndromeen_US
dc.subjectEIF2B geneen_US
dc.subjectEpilepsyen_US
dc.subjectMRIen_US
dc.subjectVanishing white matter (VWM)en_US
dc.subjectanticonvulsive agenten_US
dc.subjectcomplementary DNAen_US
dc.subjectguanine nucleotide exchange factoren_US
dc.subjectlamotrigineen_US
dc.subjectlevetiracetamen_US
dc.subjecttopiramateen_US
dc.subjectvalproic aciden_US
dc.subjectArticleen_US
dc.subjectataxiaen_US
dc.subjectchilden_US
dc.subjectclinical articleen_US
dc.subjectclinical featureen_US
dc.subjectconsanguineous marriageen_US
dc.subjectconvulsionen_US
dc.subjectdeteriorationen_US
dc.subjectdrug resistant epilepsyen_US
dc.subjectdystoniaen_US
dc.subjectelectrocardiographyen_US
dc.subjectepilepsyen_US
dc.subjectexonen_US
dc.subjectfemaleen_US
dc.subjectfirst cousinen_US
dc.subjectfollow upen_US
dc.subjectgene deletionen_US
dc.subjectgene mutationen_US
dc.subjectgenetic analysisen_US
dc.subjectgenetic disorderen_US
dc.subjecthead injuryen_US
dc.subjectheart arrhythmiaen_US
dc.subjecthigh throughput sequencingen_US
dc.subjecthumanen_US
dc.subjectintronen_US
dc.subjectmacrocephalyen_US
dc.subjectmaleen_US
dc.subjectmissense mutationen_US
dc.subjectmotor performanceen_US
dc.subjectmyoclonus seizureen_US
dc.subjectneuroimagingen_US
dc.subjectnuclear magnetic resonance imagingen_US
dc.subjectonset ageen_US
dc.subjectoptic nerve atrophyen_US
dc.subjectphenotypic variationen_US
dc.subjectpneumoniaen_US
dc.subjectpriority journalen_US
dc.subjectspeech disorderen_US
dc.subjectsubdural hematomaen_US
dc.subjecttonic seizureen_US
dc.subjectupper respiratory tract infectionen_US
dc.subjecturinary tract infectionen_US
dc.subjectvanishing white matter diseaseen_US
dc.subjectwhite matter lesionen_US
dc.titleVanishing white matter disease with different facesen_US
dc.typeArticleen_US
dc.identifier.volume36en_US
dc.identifier.issue2en_US
dc.identifier.startpage353
dc.identifier.startpage353en_US
dc.identifier.endpage361en_US
dc.authorid0000-0002-4470-9076-
dc.authorid0000-0001-8665-6008-
dc.identifier.doi10.1007/s00381-019-04334-6-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.pmid31385086en_US
dc.identifier.scopus2-s2.0-85070242436en_US
dc.identifier.wosWOS:000511667000018en_US
dc.identifier.scopusqualityQ2-
dc.ownerPamukkale University-
item.languageiso639-1en-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.openairetypeArticle-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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