A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

@article{Serratosa1999ANP,
  title={A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).},
  author={J. Serratosa and P. G{\'o}mez-Garre and M. E. Gallardo and B. Anta and D. B. de Bernab{\'e} and D. Lindhout and P. Augustijn and C. Tassinari and R. Malafosse and M. Topçu and D. Grid and C. Dravet and S. Berkovic and S. D. de C{\'o}rdoba},
  journal={Human molecular genetics},
  year={1999},
  volume={8 2},
  pages={
          345-52
        }
}
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for EPM2 previously has been mapped to chromosome 6q23-q25 using linkage analysis and homozygosity mapping. Here we report the positional cloning of the 6q EPM2 gene. A microdeletion within the EPM2 critical region… Expand
191 Citations
Molecular biology of progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1)
  • PDF
Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy
  • 10
  • PDF
A PTG Variant Contributes to a Milder Phenotype in Lafora Disease
  • 26
  • PDF
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.
  • 134
  • Highly Influenced
  • PDF
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
  • 14
  • PDF
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 18 REFERENCES
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.
  • 103
Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR.
  • 80
La Maladie De Lafora
  • 30
Crystal structure of human protein tyrosine phosphatase 1B.
  • 649
Progressive myoclonus epilepsies: specific causes and diagnosis.
  • 278
The epidemiology of epilepsy. Past, present, and future.
  • 293
...
1
2
...