In addition, two particularly severely affected siblings (90.1 and 90.2) compound heterozygous for EPG5 variants c.5869+1G>A and p.Trp1989Ter presented with myoclonus from birth, followed by dystonia from four weeks, early‐onset parkinsonism at three months, progressive infantile epileptic encephalopathy, and death in late infancy. Here, EPG5 is linked to infantile epileptic encephalopathy.