Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up.

Bektas G., Bektas G., YEŞİL G., YEŞİL G., Ozkan M. U., Ozkan M. U., ...Daha Fazla

Clinical neurology and neurosurgery, cilt.171, ss.190-193, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 171
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.clineuro.2018.06.023
  • Dergi Adı: Clinical neurology and neurosurgery
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.190-193
  • Anahtar Kelimeler: Child, eif2b, Neuroimaging, Neurology
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.