Lafora disease (LD; EPM2A/B; OMIM #254780) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive mode and caused by biallelic mutations in EPM2A (Laforin) or EPM2B (NHLRC1; Malin) [1, 2]. The gene discussed is EPM2A; the disease is progressive myoclonus epilepsy.