Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.
Chan
Elayne M
EM
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada.
Andrade
Danielle M
DM
Franceschetti
Silvana
S
Minassian
Berge
B
D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D055313:Cystatin B; D015891:Cystatins / Q000235:genetics; D004195:Disease Models, Animal; D006801:Humans; D020192:Lafora Disease / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D051379:Mice; D020191:Myoclonic Epilepsies, Progressive / Q000145:classification / Q000235:genetics / Q000503:physiopathology; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D044767:Ubiquitin-Protein Ligases; D020194:Unverricht-Lundborg Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
C524994:CSTB protein, human; D002352:Carrier Proteins; C524992:Cstb protein, mouse; D015891:Cystatins; D055313:Cystatin B; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human