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episodic ataxia type 2

episodic ataxia characterized by acetazolamide-responsive attacks of ataxia lasting for hours/days (unlike EA1, which lasts up to minutes); caused by mutations in CACNA1A encoding P/Q-type voltage-gated calcium channel CaV2.1
MedicalCondition developmental_defect_during_embryogenesis Q2868790
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episodic ataxia type 2

Summary

episodic ataxia type 2 is a developmental defect during embryogenesis[1].

Key Facts

  • episodic ataxia type 2's instance of is recorded as developmental defect during embryogenesis[2].
  • episodic ataxia type 2's instance of is recorded as rare disease[3].
  • episodic ataxia type 2's instance of is recorded as class of disease[4].
  • episodic ataxia type 2 is a type of episodic ataxia[5].
  • episodic ataxia type 2 is a type of channelopathy[6].
  • episodic ataxia type 2's NCI Thesaurus ID is recorded as C202603[7].
  • episodic ataxia type 2's health specialty is recorded as neurology[8].
  • episodic ataxia type 2's genetic association is recorded as CACNA1A[9].
  • episodic ataxia type 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050990[10].
  • episodic ataxia type 2's exact match is recorded as http://identifiers.org/doid/DOID:0050990[11].
  • episodic ataxia type 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].

References

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

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [11] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  11. [12] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). episodic ataxia type 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/episodic-ataxia-type-2
MLA “episodic ataxia type 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/episodic-ataxia-type-2.
BibTeX @misc{4ortxyz_episodic-ataxia-type-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{episodic ataxia type 2}}, year = {2026}, url = {https://4ort.xyz/entity/episodic-ataxia-type-2}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): episodic ataxia type 2 — https://4ort.xyz/entity/episodic-ataxia-type-2 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/episodic-ataxia-type-2 · 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. 4w ago · Eskivor · 2026-05-25 view diff on Wikidata ↗
    Icd-10-cm → G11.8
    Subclass of → episodic ataxia, channelopathy
    Nci thesaurus id → C202603
    Mesh descriptor id → C535506
    + 17 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-create:2||1 */ [[Property:P7329]]: 8A03.14"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.