Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (4)
DOID:891 - progressive myoclonus epilepsy

Disease Ontology Definition:A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.

Synonyms: progressive myoclonic epilepsy (disorder), progressive myoclonic epilepsy (disorder) [Ambiguous], PME, progressive Myoclonus epilepsy, progressive myoclonic epilepsy

Xenbase Genes : prickle1, lmnb2, scarb2, epm2a, prdm8, kctd7, cstb, cers1, kcnc1, nhlrc1, gosr2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0020074 - progressive myoclonus epilepsy

MIM:
MIM:254900 - EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4
MIM:310370 - MYOCLONIC EPILEPSY, PROGRESSIVE
MIM:611726 - EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3
MIM:612437 - EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B
MIM:614018 - EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): variable age at onset electroclinical syndrome (is_a)