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progressive myoclonus epilepsy

Human disease
MedicalCondition rare_disease Q7248853
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Summary

progressive myoclonus epilepsy is a rare disease[1]. It draws 188 Wikipedia views per month (rare disease category, ranking #220 of 627).[2]

Key Facts

  • Instance of: class of disease[3]
  • Subclass of: variable age at onset electroclinical syndrome[4], myoclonic epilepsy[5], progressive epilepsy and/or ataxia with myoclonus as a major feature[6]
  • Commons category: Progressive myoclonus epilepsy[7]
  • NCI Thesaurus ID: C7636[8]
  • Health specialty: neurology[9]
  • Genetic association: GOSR2[10], KCTD7[11], SCARB2[12], PRICKLE1[13], KCNC1[14]
  • Exact match: http://purl.obolibrary.org/obo/DOID_891[15], http://identifiers.org/doid/DOID:891[16], http://www.orpha.net/ORDO/Orphanet_308[17]
  • On focus list of Wikimedia project: WikiProject Medicine[18]

Why It Matters

progressive myoclonus epilepsy has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[19] It is known by 17 alternative names across languages and contexts.[20]

Related Entities

neurology

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . wikidata.org.
  5. [7] ↑ . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . wikidata.org.
  8. [10] ↑ . A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. wikidata.org.
  9. [11] ↑ . Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. wikidata.org.
  10. [12] ↑ . Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. wikidata.org.
  11. [13] ↑ . A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. wikidata.org.
  12. [14] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [15] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [16] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  15. [17] ↑ . wikidata.org.
  16. [18] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [19] ↑ . Wikidata sitelinks. wikidata.org.
  3. [20] ↑ . Wikidata aliases. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). progressive myoclonus epilepsy. Retrieved October 18, 2026, from https://4ort.xyz/entity/progressive-myoclonus-epilepsy
MLA “progressive myoclonus epilepsy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 18 Oct. 2026, https://4ort.xyz/entity/progressive-myoclonus-epilepsy.
BibTeX @misc{4ortxyz_progressive-myoclonus-epilepsy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{progressive myoclonus epilepsy}}, year = {2026}, url = {https://4ort.xyz/entity/progressive-myoclonus-epilepsy}, note = {Accessed: 2026-10-18}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): progressive myoclonus epilepsy — https://4ort.xyz/entity/progressive-myoclonus-epilepsy (retrieved 2026-10-18)

Canonical URL: https://4ort.xyz/entity/progressive-myoclonus-epilepsy · Last refreshed:

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 11d ago · Jmarchn · 2026-10-08 view diff on Wikidata ↗
    Subclass of → —
    Commons category → Progressive myoclonus epilepsy
    Genetic association → GOSR2, KCTD7, SCARB2 +2
    Instance of → rare disease, class of disease
    + 6 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-create:2||1 */ Commons category: Progressive myoclonus epilepsy"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.