Molecular background of EPM1—Unverricht–Lundborg disease
Article first published online: 20 NOV 2007
2008 International League Against Epilepsy
Volume 49, Issue 4, pages 557–563, April 2008
How to Cite
Joensuu, T., Lehesjoki, A.-E. and Kopra, O. (2008), Molecular background of EPM1—Unverricht–Lundborg disease. Epilepsia, 49: 557–563. doi: 10.1111/j.1528-1167.2007.01422.x
- Issue published online: 20 NOV 2007
- Article first published online: 20 NOV 2007
- Accepted October 8, 2007; Online Early publication November 20, 2007.
- Cystatin B;
- Progressive myoclonus epilepsy;
Unverricht–Lundborg disease (EPM1) is an autosomal recessively inherited neurodegenerative disorder and the most common single cause of progressive myoclonus epilepsy worldwide. Mutations in the gene encoding cystatin B (CSTB), a cysteine protease inhibitor, are responsible for the primary defect underlying EPM1. Here, progress toward understanding the molecular mechanisms in EPM1 is reviewed. We summarize the current knowledge about the CSTB gene and mutations as well as the cellular biology of the CSTB protein with emphasis on data emerging from analysis of EPM1 patients. We shed light on the disease mechanisms of EPM1 based on characterization of the CSTB-deficient mouse model.