Disease name

Progressive myoclonus epilepsy  Progressive myoclonus epilepsy

Marker gene

Gene symbol Chromosome location Protein name CSTB 21q22.3 Cystatin-B EPM2A 6q24.3 Laforin NHLRC1 6p22.3 E3 ubiquitin-protein ligase NHLRC1 PRICKLE1 12q12 Prickle-like protein 1 SCARB2 4q21.1 Lysosome membrane protein 2 SERPINI1 3q26.1 Neuroserpin

Summary

This term does not characterize a disease