progressive myoclonus epilepsy

Summary
Synonym
  • PME
  • progressive myoclonic epilepsy
Definition
A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.
Super Class
variable age at onset electroclinical syndrome
External Links
Disease Ontology
DOID:891
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
54732 TMED9 transmembrane p24 trafficking protein 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
13853 Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
114005 Epm2a EPM2A glucan phosphatase, laforin

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024