EPM2A and Lafora disease: Lafora Disease (LD, OMIM# 254780) is an autosomal recessive progressive myoclonic epilepsy (PME) caused by loss-of-function mutations in either the EPM2A (OMIM # 607566) gene, encoding the laforin glycogen phosphatase, or the NHLRC1 (OMIM # 608072) gene, encoding the malin ubiquitin E3 ligase (1).