# episodic ataxia type 1

> episodic ataxia characterized by attacks of ataxia lasting seconds/minutes induced by emotion/stress with myokymia during/between attacks; onset during childhood/adolescence; caused by mutation of KCNA1 encoding voltage-gated potassium channel KV1.1

**Wikidata**: [Q21694563](https://www.wikidata.org/wiki/Q21694563)  
**Source**: https://4ort.xyz/entity/episodic-ataxia-type-1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000111262/MONDO_0008047)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)