NHLRC1 and Lafora disease: Lafora disease is an autosomal recessive disease caused by mutations in the EPM2A (laforin) or EPM2B (malin) gene.2 Laforin is a glycogen phosphatase,3,4 but loss of this function does not result in polyglucosans.5 It is also a scaffold protein that bridges malin to glycogen.6 Malin is an E3 ubiquitin ligase,7 whose native substrates are still to be identified.