episodic ataxia type 6
Findings
No curated finding names episodic ataxia type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
Definition from the Mondo Disease Ontology (MONDO:0012982), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
18 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.
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Episodic ataxiaHPOHP:0002131
- 1 of 1 reported patient
- Episodic generalized hypotoniaHPOHP:0006852
- 1 of 1 reported patient · Infantile onset
- HemiparesisHPOHP:0001269
- 1 of 1 reported patient
- Slurred speechHPOHP:0001350
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Truncal ataxiaHPOHP:0002078
- 1 of 1 reported patient
Show the remaining 6
- Gaze-evoked nystagmusHPOHP:0000640
- Occasional (5% to 29% of cases)
- HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
- HemiplegiaHPOHP:0002301
- Occasional (5% to 29% of cases)
- MigraineHPOHP:0002076
- Occasional (5% to 29% of cases)
- Reduced visual acuityHPOHP:0007663
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- 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.
- SLC1A3HGNC:10941
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Laboratory for Molecular Medicine · Unknown · 2020
Where it sits
Other names
2 names
Resolves to: episodic ataxia type 6
- Also called
- hereditary episodic ataxia caused by mutation in SLC1A3SLC1A3 hereditary episodic ataxia