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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
Epilepsia, Volume 51, No. 9, Year 2010
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Description
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 unrelated patients with suspected LD, 33 originating from France and the others from different countries. Patients were classified into two groups according to the clinical presentation. Results: Mutations of various types were found in EPM2A in 10 patients and in NHLRC1 in 4 patients. Mutations were found in 14 (93%) of 15 patients with classical clinical and electroencephalography (EEG) presentation of LD and in no patients with an atypical presentation. Ten mutations were novel, including the first substitution reported in a donor splice site of EPM2A, leading to the deletion of exon 2 at the RNA level. Four large deletions, including two deletions of exon 2 with different sizes and breakpoints, were found in EPM2A, corresponding to 20% of the alleles of this gene. Discussion: We described several novel mutations of EPM2A and NHLRC1 and brought additional data to the genetic epidemiology of LD. This study emphasized the high mutation rate in patients with classical LD as well as the high negativity rate of skin biopsy. © 2010 International League Against Epilepsy.
Authors & Co-Authors
Lesca, Gaëtan
France, Villeurbanne
Université Claude Bernard Lyon 1
France, Lyon
Institut Des Épilepsies de L'enfant et de L'adolescent Idee
Boutry-Kryza, Nadia
France, Villeurbanne
Université Claude Bernard Lyon 1
De Toffol, Bertrand
France, Tours
Hopital Bretonneau
Milh, Mathieu D.
France, Marseille
Hopital la Timone
Steschenko, Dominique
France, Vandoeouvre-les-nancy
Hopital D'enfants Chu Nancy
Lemesle-Martin, Martine
France, Dijon
Hôpital François Mitterrand
Maillard, Louis Georges
France, Vandoeouvre-les-nancy
Cran Centre de Recherche en Automatique de Nancy
Foletti, Giovanni
Switzerland, Lausanne
Institution de Lavigny
Rudolf, G.
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Nielsen, Jørgen E.
Denmark, Copenhagen
Københavns Universitet
Denmark, Copenhagen
Rigshospitalet
Á Rogvi-Hansen, Bjarke
Denmark, Copenhagen
Rigshospitalet
Erdal, Jesper
Denmark, Copenhagen
Rigshospitalet
Mancini, Josette
France, Marseille
Hopital la Timone
Thauvin-Robinet, Christel
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
M'Rrabet, Amel
France, Lyon
Chu de Lyon
Ville, Dorothée Crossed Dsign©e
France, Villeurbanne
Université Claude Bernard Lyon 1
Szepetowski, Pierre
France, Paris
Inserm
Raffo, Emmanuel
France, Vandoeouvre-les-nancy
Hopital D'enfants Chu Nancy
Hirsch, Édouard
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Ryvlin, Philippe
France, Lyon
Institut Des Épilepsies de L'enfant et de L'adolescent Idee
France, Villeurbanne
Université Claude Bernard Lyon 1
Calender, Alain
France, Villeurbanne
Université Claude Bernard Lyon 1
Genton, Pierre
France, Paris
Inserm
France, Marseille
Centre Saint-paul Hôpital Henri Gastaut
Statistics
Citations: 46
Authors: 22
Affiliations: 16
Identifiers
Doi:
10.1111/j.1528-1167.2010.02692.x
e-ISSN:
15281167
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Study Design
Cohort Study