Auteurs
Lesca G - Boutry-Kryza N - de Toffol B - Milh M - Steschenko D - Lemesle-Martin M - Maillard L - Foletti G - Rudolf G - Nielsen JE - á Rogvi-Hansen B - Erdal J - Mancini J - Thauvin-Robinet C - M'Rrabet A - Ville D - Szepetowski P - Raffo E - Hirsch E - Ryvlin P - Calender A - Genton P
Journal
Epilepsia
Abstract
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.