# progressive myoclonus epilepsy

> Human disease

**Wikidata**: [Q7248853](https://www.wikidata.org/wiki/Q7248853)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Progressive_myoclonus_epilepsy)  
**Source**: https://4ort.xyz/entity/progressive-myoclonus-epilepsy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
4. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy
5. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
6. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000129159/Orphanet_98261)
8. BabelNet
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)