Associated Papers
ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine.
Fontana D et al.
Nature Communications, 2020
33230096 (PubMed )
Supplement: 41467_2020_19721_MOESM11_ESM.xlsx › Sheet1
Vanishing white matter disease with different faces.
Güngör G et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2020
A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report.
Gungor O et al.
Genetic Counseling (geneva, Switzerland), 2015
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A et al.
Neurology, 2004
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