Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

Research output: Contribution to journalJournal articleResearchpeer-review

Gaetan Lesca, Nadia Boutry-Kryza, Bertrand de Toffol, Mathieu Milh, Dominique Steschenko, Martine Lemesle-Martin, Louis Maillard, Giovanni Foletti, Gabrielle Rudolf, Jørgen Erik Nielsen, Bjarke á Rogvi-Hansen, Jesper Erdal, Josette Mancini, Christel Thauvin-Robinet, Amel M'Rrabet, Dorothée Ville, Pierre Szepetowski, Emmanuel Raffo, Edouard Hirsch, Philippe Ryvlin & 2 more Alain Calender, Pierre Genton

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.
Original languageEnglish
Issue number9
Pages (from-to)1691-8
Number of pages8
Publication statusPublished - 1 Sep 2010

ID: 34057039