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episodic ataxia type 8 (EA8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

episodic ataxia type 8

MONDO:0014476

Also known as:EA8episodic ataxia with slurred speechepisodic ataxia, type 8

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Overview

GeneticsAutosomal dominant

Clinical Trials1 registered

ResearchLimited published research (6 articles)

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 sometimes findings: Myokymia, Nystagmus, Dysarthria, and Intention tremor. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Episodic ataxia, Dysarthria, Ataxia
Eyes

Prognosis

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.

6 publications have been identified in PubMed for episodic ataxia type 8. Research spans Other (33%), Basic Science / Preclinical (33%), and Case Report / Case Series (17%).

Recent Publications

Gold DR (2026). [PMID: 40693779](https://pubmed.ncbi.nlm.nih.gov/40693779/). *J Neuroophthalmol*. [Other]
Matlawska M (2026). [PMID: 42096001](https://pubmed.ncbi.nlm.nih.gov/42096001/). *Cerebellum*. [Basic Science / Preclinical]
Harvey S (2025). [PMID: 39979677](https://pubmed.ncbi.nlm.nih.gov/39979677/). *Eur J Hum Genet*. [Other]
Sun WB (2024). [PMID: 38570113](https://pubmed.ncbi.nlm.nih.gov/38570113/). *J Genet Genomics*. [Basic Science / Preclinical]
Mammadova D (2024). [PMID: 39416668](https://pubmed.ncbi.nlm.nih.gov/39416668/). *Front Neurol*. [Epidemiology / Natural History]

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:616055

Orphanet

European rare disease database

Orphanet:401953

GARD

Genetic and Rare Diseases Info Center

GARD:17665

Questions for Your Care Team

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episodic ataxia type 8

Overview

Clinical Presentation

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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