episodic ataxia type 2
Findings
No curated finding names episodic ataxia type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
Definition from the Mondo Disease Ontology (MONDO:0007163), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- VertigoHPOHP:0002321
- Very frequent (80% to 99% of cases)
- DiplopiaHPOHP:0000651
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- HemiplegiaHPOHP:0002301
- Frequent (30% to 79% of cases)
- MigraineHPOHP:0002076
- Frequent (30% to 79% of cases)
- Nausea and vomitingHPOHP:0002017
- Frequent (30% to 79% of cases)
- TinnitusHPOHP:0000360
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Occasional (5% to 29% of cases)
- Cerebellar vermis atrophyHPOHP:0006855
- Occasional (5% to 29% of cases)
Show the remaining 2
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- TorticollisHPOHP:0000473
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CACNA1AHGNC:1388
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: episodic ataxia type 2
- Also called
- CACNA1A hereditary episodic ataxiahereditary episodic ataxia caused by mutation in CACNA1A