Bektas, GoncaYEŞİL, GÖZDEOzkan, Melis UlakYildiz, Edibe PembegulUzunhan, Tugce AksuCaliskan, Mine2019-11-172019-11-172018-08-01Bektas G., YEŞİL G., Ozkan M. U. , Yildiz E. P. , Uzunhan T. A. , Caliskan M., -Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up-, CLINICAL NEUROLOGY AND NEUROSURGERY, cilt.171, ss.190-193, 2018https://hdl.handle.net/20.500.12645/10344Background: Vanishing white matter disease is a heterogeneous disorder caused by mutation in one of the five genes encoding subunits of the eukaryotic initiation factor eIF2B. It is a heterogeneous disorder due to phenotypic variation and a clear genotype-phenotype correlation could not be established so far. We describe a novel mutation in the EIF2B5 gene by analyzing the clinical phenotype and the progression of brain lesions for 10 years.enArticle29933199