# episodic ataxia type 6

> Human disease

**Wikidata**: [Q21097872](https://www.wikidata.org/wiki/Q21097872)  
**Source**: https://4ort.xyz/entity/episodic-ataxia-type-6


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/3bcae41b-3438-4e82-8f29-83cca7f142f0--2020-10-09T16:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3bcae41b-3438-4e82-8f29-83cca7f142f0-2020-10-09T160000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000079215/MONDO_0012982)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)