Stanford University School of Medicine other research news

Researchers reported in Science that mutations in the gene encoding cystatin B are responsible for the primary defect in patients with progressive myoclonus epilepsy (EPM1), a rare, inherited form of epilepsy.

Cystatin B is a small protein that is thought to inactivate proteases that leak out of the lysosome. Knowledge of the defect provides a biochemical pathway and molecular target for treatment of EPM1 and possibly other forms of epilepsy, the authors concluded. ...