Previously we described the use of the Illumina TruSeq Methyl Capture Library kit and next-generation sequencing (EPIC-NGS) to detect methylation episignatures for KMT2B-associated dystonia and Type 1 and KMT2D-related Kabuki syndrome, confirming the results of methylation profiles for these disorders using methylation arrays (5,34). This evidence concerns the gene KMT2B and Kabuki syndrome.