Mutations of either GlialCAM or Mcl1 genes lead to megalencephalic leukoencephalopathy, a type of leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, symptoms comparable to the neurological phenotype of ClC-2 disruption (López-Hernández et al., 2011). This evidence concerns the gene HEPACAM and leukodystrophy.