Publication: Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up
Ozkan, Melis Ulak
Yildiz, Edibe Pembegul
Uzunhan, Tugce Aksu
Background: 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.
Bektas 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, 2018