The finding of often severe epilepsy from infancy in two-thirds of patients puts EPG5 within the rapidly expanding group of genes associated with early-onset epileptic encephalopathies, and in the context of other conditions, for example Lafora body disease (Ebrahimi-Fakhari et al., 2014) or mTOR-related disorders (Lipton and Sahin, 2014), where severe epilepsy and dysregulation of the autophagy pathway have been associated. This evidence concerns the gene EPG5 and Lafora disease.