DNMT1 and autosomal dominant cerebellar ataxia, deafness and narcolepsy: The episignature for ADCADN was generated using samples from a family with the same recurrent mutation, c.1709C>T in exon 21, which leads to the p.Ala570Val missense variant in the replication foci targeting sequence (RFTS) domain13, and similar nearby missense variants in other individuals with ADCADN have been shown to prevent inhibition of DNMT1 activity, thereby increasing DNA methylation29.