Article
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Epilepsia - 1 Sept 2010
Lesca Gaetan, Boutry-Kryza Nadia, de Toffol Bertrand, Milh Mathieu, Steschenko Dominique, Lemesle-Martin Martine, Maillard Louis, Foletti Giovanni, Rudolf Gabrielle, Nielsen Jørgen Erik, á Rogvi-Hansen Bjarke, Erdal Jesper, Mancini Josette, Thauvin-Robinet Christel, M'Rrabet Amel, Ville Dorothée, Szepetowski Pierre, Raffo Emmanuel, Hirsch Edouard, Ryvlin Philippe, Calender Alain, Genton Pierre
Abstract excerpt
PURPOSE: Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD. METHODS: Sequencing of the two genes and search for large rearrangements was performed in 46...
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