Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

Academic Article


  • Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The gene coding cystatin B was shown to be localized to this region, and levels of messenger RNA encoded by this region were found to be decreased in the cells from affected individuals. Two mutations, a 3' splice site mutation and a stop codon mutation, were identified in the gene encoding cystatin B in EPM1 patient but were not present in unaffected individuals. These results provide evidence that mutations in the gene encoding cystatin B are responsible for the primary defect in patients with EPM1.
  • Published In

  • Science  Journal
  • Digital Object Identifier (doi)

    Author List

  • Pennacchio LA; Lehesjoki AE; Stone NE; Willour VL; Virtaneva K; Miao J; D'Amato E; Ramirez L; Faham M; Koskiniemi M
  • Start Page

  • 1731
  • End Page

  • 1734
  • Volume

  • 271
  • Issue

  • 5256