THE PRESENTING SYMPTOMS OF LAFORA DISEASE: AN ELECTROCLINICAL AND GENETIC STUDY IN FIVE APULIAN (SOUTHERN ITALY) FAMILIES

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Lafora Disease (LD, OMIM# 254780) is a progressive myoclonic epilepsy inherited in an autosomal recessive manner, due to rare mutations in either the EPM2A or the NHLRC1 genes, encoding for the laforin glycogen phosphatase on chromosome 6q24 and the malin ubiquitin E3 ligase on chromosome 6p22.3 [1], respectively. The absence of either of the two proteins results in Lafora bodies, which contain polyglucosan, a poorly branched form of glycogen, in neurons, muscle and other tissues, and main drivers of neurodegeneration [2].

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