Mouse Model for Progressive Myoclonus Epilepsy (EPM1)

Stanford Reference:

98-194

Abstract

Myers, et al previously discovered that specific loss-of-function mutations in the human cystatin B gene on chromosome 21 cause the human genetic disease Progressive Myoclonus Epilepsy (EPM1). They have now created a mouse model for EPM1--the first mouse model of a human epilepsy.

This mouse model for the EPM1 may prove effective in development of therapies for EPM1 and other Progressive Myoclonic Epilepsies. Additionally, it may serve as a model to uncover the mechanisms of action of dilantin and of cysteine proteases and their inhibitors, and clarify the role of cystatin B in apoptosis and corneal defects.

Applications

To develop better therapies for treating EPM1
To develop therapies that may be relevant in treating other Progressive Myoclonic Epilepsies
To understand the mechanism of action of dilantin (phenytoin), which in EPM1 patients, causes worse symptoms than no treatment at all. Dilantin is one of the most commonly prescribed antiepileptic drugs, but its mechanism of action is unknown and its affects vary from patient to patient.
To study apoptosis in vivo . These knockout mice have widespread granule cell death in the cerebellum indicating cystatin B has an essential role in preventing apoptosis.
To study corneal defects. Mice lacking cystatin B develop ocular opacities as a result of corneal lesions.
To study cysteine proteases and their inhibitors

Advantages

This is the first mouse model of human epilepsy and it may contribute greatly to the development of future epilepsy mouse models and in discovery of therapeutic targets for epilepsy

Publications

Pennacchio, L. A., Bouley, D. M., Higgins, K. M., Scott, M. P., Noebels, J. L., and Myers, R. M. (1998). Progressive ataxia, myoclonic epilepsy, and cerebellar apoptosis in cystatin B-deficient mice. Nature Genet. 20: 251-258.

Innovators & Portfolio

Kay Higgins more technologies from Kay Higgins »
Richard Myers more technologies from Richard Myers »
Len Pennacchio
Matthew Scott more technologies from Matthew Scott »

Date Released

2/4/1999 12:00

Licensing Contact

Brenda Martino, Biological Materials Specialist
(650) 725-9119 (Direct)
Request Info

79-066		Mouse Anti-Human Hybridomas: 12E7, L243, L17F12, L368
82-008		A Monoclonal Antibody Specific For Mouse Granulocytes - RB6-8C5 and RA3-6B2
82-010		A Monoclonal Antibody Specific for the B-220 Surface Glycoprotein in Mouse (RA3-3A1)

more technologies »

Related Keywords

research tool screening therapeutic: disease model MD: neurology epilepsy mouse cage LS: research tool: animal model therapeutic therapeutic: immunotherapy

Home

Explore Technologies