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

Bektas, Gonca; Bektas, Gonca; YEŞİL, GÖZDE; YEŞİL, Gözde; Ozkan, Melis; Ozkan, Melis; Yildiz, Edibe; Yildiz, EDİBE; Uzunhan, Tugce; Uzunhan, Tugce; Caliskan, Mine; Caliskan, Mine

doi:10.1016/j.clineuro.2018.06.023

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, Scopus)

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.