We also provide insights into the molecular pathophysiology of this disorder, documenting that KMT2B haploinsufficiency causes specific DNA hypermethylation of promoters and other regulatory regions positively controlling gene expression, pointing to the use of DNA methyltransferase inhibitors or molecules targeting KDM5 demethylases as potential therapeutic approaches in DYT28. This evidence concerns the gene KMT2B and dystonia 28, childhood-onset.