SGCE and Dystonia: An investigation of a dominantly‐inherited British pedigree with eight affected subjects yielded a novel causative gene, potassium channel tetramerization domain‐containing 17 (KCTD17).[79] This was achieved through linkage analysis coupled with exome sequencing (a common strategy used in the NGS era) to identify novel dystonia‐causing genes.[80] The role of KCTD17 in MDS was further corroborated by two independent reports of cases with de novo splice‐site mutations in this gene.[81, 82] However, KCTD17‐related MDS differs from that caused by SGCE mutations.