Nine patients (60%) underwent genetic testing, mostly consisting of genetic panels based on whole exome sequencing (WES) with subsequent analysis of the relevant genes (eg, a dystonia panel [including ANO3, CACNA1B, NKX2‐1/TIF1 and SGCE], myoclonus panel [including ATM, NPC1, and POLG] and/or epilepsy panel [including CACNA1, SCN1A, SLC2A, and STXBP1]), with negative results. This evidence concerns the gene NPC1 and Dystonia.