VWM is caused by biallelic loss-of-function variants in any of the five genes (EIF2B1-5) that encodes the five subunits (alpha-epsilon) of the eukaryotic translation initiation factor 2B (eIF2B), a guanine nucleotide exchange factor that plays a crucial role in regulating protein synthesis (Leegwater et al., 2001). Here, EIF2B1 is linked to leukoencephalopathy with vanishing white matter.