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episodic ataxia type 7 (EA7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

episodic ataxia type 7

MONDO:0012755

Also known as:EA7episodic ataxia, type 7

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Overview

Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.

GeneticsAutosomal dominant

Clinical Trials1 registered

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 very common findings: Vertigo, Episodic ataxia, Dysarthria, and Muscle weakness; and common findings: Nystagmus. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Episodic ataxia, Dysarthria, Migraine

Diagnosis

Biomarker and diagnostic research for episodic ataxia type 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 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. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

11 publications have been identified in PubMed for episodic ataxia type 7. Research spans Case Report / Case Series (45%), Diagnostic / Biomarker (27%), and Other (9%).

Research Type	Count	% of Total
Patient case studies	5	45%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611907

Orphanet

European rare disease database

Orphanet:209970

GARD

Genetic and Rare Diseases Info Center

GARD:17108

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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 7

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

episodic ataxia type 7

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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