The great majority of mutations causing Lafora disease have been identified in two genes: EPM2A (encoding laforin) a member of the dual-specificity protein phosphatase family[5,6], and NHLRC1 (encoding malin) a protein with an NH2-terminal RING finger domain, characteristic of an important group of E3-ubiquitin ligases[7,8]. This evidence concerns the gene EPM2A and Lafora disease.