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dc.contributor.authorKılıç, Betül
dc.contributor.authorTopçu, Yasemin
dc.contributor.authorDursun, Şiar
dc.contributor.authorErol, İlknur
dc.contributor.authorDolu, Merve Hilal
dc.contributor.authorTaşdemir, Haydar Ali
dc.contributor.authorAydın, Kürşad
dc.date.accessioned2020-08-28T06:58:33Z
dc.date.available2020-08-28T06:58:33Z
dc.date.issued2020en_US
dc.identifier.citationKılıç, B., Topçu, Y., Dursun, Ş., Erol, İ., Dolu, M. H., Taşdemir, H. A. ... Aydın, K. (2020). Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease. Brain and Development, 42(8), 572-580. https://dx.doi.org/10.1016/j.braindev.2020.05.008en_US
dc.identifier.issn0387-7604
dc.identifier.issn1872-7131
dc.identifier.urihttps://dx.doi.org/10.1016/j.braindev.2020.05.008
dc.identifier.urihttps://hdl.handle.net/20.500.12511/5754
dc.description.abstractAim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. Material and methods: Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described. Results: Among seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic. Four different homozygous variants were found in the SLC19A3. Two patients with early infantile form presented with encephalopathy, dystonia, and refractory seizure in the neonatal period and have different variants. Their MRI findings were similar and pathognomonic for the early infantile form. Three siblings had same variants: one presented seizure and encephalopathy at the age of 4 months, one presented seizure at 14 years, and another was asymptomatic at 20 years. Only one of them had normal MRI findings, and the others MRI findings were similar and suggestive of the classic form. Other two siblings; one of them presented with developmental delay, seizure, and dystonia at 18 months and the other presented with subacute encephalopathy and ataxia at 20 months. Their MRI findings were also similar and suggestive of the classic form. Conclusion: BTBGD may present with dissimilar clinical characteristics or remain asymptomatic for a long time period even in a family or patients with same variants. Brain MRI patterns may be important for the early diagnosis of BTBGD that would save children's lives.en_US
dc.language.isoengen_US
dc.publisherElsevieren_US
dc.rightsinfo:eu-repo/semantics/embargoedAccessen_US
dc.subjectSLC19A3en_US
dc.subjectThiamineen_US
dc.subjectBiotinen_US
dc.subjectClinical Presentationen_US
dc.subjectMRI Patternsen_US
dc.titleSingle gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia diseaseen_US
dc.typearticleen_US
dc.relation.ispartofBrain and Developmenten_US
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.authorid0000-0003-1513-6149en_US
dc.identifier.volume42en_US
dc.identifier.issue8en_US
dc.identifier.startpage572en_US
dc.identifier.endpage580en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.doi10.1016/j.braindev.2020.05.008en_US
dc.identifier.wosqualityQ3en_US
dc.identifier.scopusqualityQ2en_US


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