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episodic ataxia type 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

episodic ataxia type 6

MONDO:0012982

Also known as:SLC1A3 hereditary episodic ataxiahereditary episodic ataxia caused by mutation in SLC1A3EA6

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Overview

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.

GeneticsAutosomal dominant · SLC1A3 (chr 5)

OnsetINFANTILE

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Truncal ataxia, Episodic ataxia, Hemiparesis, and Episodic generalized hypotonia; and very common findings: Vertigo, Photophobia, Ataxia, and Nausea and vomiting. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Hemiplegia, Truncal ataxia, Episodic ataxia

Genetic Landscape

SLC1A3 function has not been fully characterized.

Episodic ataxia type 6 is caused by mutations in the SLC1A3 gene on chromosome 5.

Diagnosis

Genetic testing for SLC1A3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 4 very common features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

1 publication has been identified in PubMed for episodic ataxia type 6. Research spans Case Report / Case Series (100%).

Recent Publications

Kim S (2024). [PMID: 39505308](https://pubmed.ncbi.nlm.nih.gov/39505308/). *J Clin Neurol*. [Case Report / Case Series]

Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612656

Orphanet

European rare disease database

Orphanet:209967

GARD

Genetic and Rare Diseases Info Center

GARD:17107

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for SLC1A3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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episodic ataxia type 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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