# 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

**Wikidata**: [Q2868790](https://www.wikidata.org/wiki/Q2868790)  
**Source**: https://4ort.xyz/entity/episodic-ataxia-type-2


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000141837/MONDO_0007163)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000141837/Orphanet_97)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)