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

  • Science. 1996 Mar 22;271(5256):1731-4. doi: 10.1126/science.271.5256.1731.
L A Pennacchio  1 ,  A E Lehesjoki ,  N E Stone ,  V L Willour ,  K Virtaneva ,  J Miao ,  E D'Amato ,  L Ramirez ,  M Faham ,  M Koskiniemi ,  J A Warrington ,  R Norio ,  A de la Chapelle ,  D R Cox ,  R M Myers
Affiliations
  • 1. Department of Genetics, Stanford University School of Medicine, Standford, CA 94305, USA.
PMID: 8596935 DOI: 10.1126/science.271.5256.1731
Abstract

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 encoding Cystatin B was shown to be localized to this region, and levels of messenger RNA encoded by this gene were found to be decreased in 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 patients 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.