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A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

AuthorsSerratosa, José María; Gómez-Garre, Pilar; Gallardo, M. Esther ; Anta, Berta; Beltrán-Valero de Bernabé, Daniel; Lindhout, Dick; Augustijn, Paul B.; Tassinari, Carlo Alberto; Michelucci, Roberto; Malafosse, Alain; Topcu, Meral; Grid, Djamel; Dravet, Charlotte; Berkovic, Samuel F.; Rodríguez de Córdoba, Santiago
Issue Date1999
PublisherOxford University Press
CitationHuman Molecular Genetics 8:345-352(1999)
AbstractProgressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for EPM2 previously has been mapped to chromosome 6q23-q25 using linkage analysis and homozygosity mapping. Here we report the positional cloning of the 6q EPM2 gene. A microdeletion within the EPM2 critical region, present in homozygosis in an affected individual, was found to disrupt a novel gene encoding a putative protein tyrosine phosphatase (PTPase). The gene, denoted EPM2, presents alternative splicing in the 5' and 3' end regions. Mutational analysis revealed that EPM2 patients are homozygous for loss-of-function mutations in EPM2. These findings suggest that Lafora disease results from the mutational inactivation of a PTPase activity that may be important in the control of glycogen metabolism.
Identifiersdoi: 10.1093/hmg/8.2.345
issn: 0964-6906
e-issn: 1460-2083
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