Lafora Disease Research Paper

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Laforin Isoform X4 is associated with epilepsy. The full name for this gene is; epilepsy, progressive myoclonus type 2A, Lafora disease (Laforin). Lafora disease is the most severe teenage-onset that progresses epilepsy. This gene encodes a dual-specificity phosphatase that associates with polyribosomes, then the encoded protein may be involved in the regulation of glycogen metabolism. The mutations in this gene are associated with myoclonic epilepsy lafora. (EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) [ Homo sapiens (human) ], n.d.) The disease is caused by a mutation in the EPM2A gene, which encodes 2 isoforms of the laforin protein, tyrosine phosphatase, having alternate carboxyl termini, one localized in the

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