Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
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.
- Publication:
-
Science
- Pub Date:
- March 1996
- DOI:
- 10.1126/science.271.5256.1731
- Bibcode:
- 1996Sci...271.1731P