Progressive myoclonus epilepsy with polyglucosans (Lafora disease)
- 10 August 2004
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 63 (3) , 565-567
- https://doi.org/10.1212/01.wnl.0000133215.65836.03
Abstract
Lafora disease (LD) is the most common teenage-onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene. Linkage and haplotype analyses exclude both loci from causative involvement in this family. Therefore, a third LD locus is predicted. Its identification will be a crucial element in the understanding of the biochemical pathway underlying the generation of Lafora bodies and LD.Keywords
This publication has 9 references indexed in Scilit:
- Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulationHuman Molecular Genetics, 2003
- Mutations in NHLRC1 cause progressive myoclonus epilepsyNature Genetics, 2003
- Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22Journal of Medical Genetics, 2003
- The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domainHuman Molecular Genetics, 2003
- Identification of a novel protein interacting with laforin, the epm2a progressive myoclonus epilepsy gene productGenomics, 2003
- Mutation spectrum and predicted function of laforin in Lafora’s progressive myoclonus epilepsyNeurology, 2000
- Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsyAnnals of Neurology, 1999
- Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsyNature Genetics, 1998
- PTG, a Protein Phosphatase 1-Binding Protein with a Role in Glycogen MetabolismScience, 1997