Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.

@article{Minassian2000MutationSA,
  title={Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.},
  author={Berge A Minassian and Leonarda Ianzano and Mark Meloche and Eva Andermann and Guy Rouleau and Antonio V Delgado-Escueta and Stephen W. Scherer},
  journal={Neurology},
  year={2000},
  volume={55 3},
  pages={341-6}
}
BACKGROUND Lafora's disease is a progressive myoclonus epilepsy with pathognomonic inclusions (polyglucosan bodies) caused by mutations in the EPM2A gene. EPM2A codes for laforin, a protein with unknown function. Mutations have been reported in the last three of the gene's exons. To date, the first exon has not been determined conclusively. It has been predicted based on genomic DNA sequence analysis including comparison with the mouse homologue. OBJECTIVES 1) To detect new mutations in exon… CONTINUE READING

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