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episodic ataxia type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

episodic ataxia type 5

MONDO:0013464

Also known as:CACNB4 hereditary episodic ataxiahereditary episodic ataxia caused by mutation in CACNB4EA5

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Overview

Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.

GeneticsAutosomal dominant · CACNB4 (chr 2)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (8 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 common findings: Bilateral tonic-clonic seizure, Dysarthria, and Postural instability; and sometimes findings: Gaze-evoked nystagmus, Truncal ataxia, Vertigo, and Febrile seizure (within the age range of 3 months to 6 years) and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Bilateral tonic-clonic seizure, Truncal ataxia, Episodic ataxia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CACNB4 encodes calcium voltage-gated channel auxiliary subunit beta 4 (520 aa). The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inacti... Highest expression in Brain Cerebellar Hemisphere (29.4 TPM) and Brain Cerebellum (23.5 TPM).

Episodic ataxia type 5 is associated with mutations in the CACNB4 gene on chromosome 2.

CACNB4 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.4.

Diagnosis

Genetic testing for CACNB4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 common features.

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.

8 publications have been identified in PubMed for episodic ataxia type 5. Research spans Case Report / Case Series (25%), Epidemiology / Natural History (25%), and Other (13%).

Recent Publications

Boumis P (2026). [PMID: 41230709](https://pubmed.ncbi.nlm.nih.gov/41230709/). *Mov Disord Clin Pract*. [Case Report / Case Series]
Hommersom MP (2025). [PMID: 39460936](https://pubmed.ncbi.nlm.nih.gov/39460936/). *Brain*. [Basic Science / Preclinical]
Rettenmaier LA (2025). [PMID: 40679574](https://pubmed.ncbi.nlm.nih.gov/40679574/). *Cerebellum*. [Epidemiology / Natural History]
Pretegiani E (2025). [PMID: 40801974](https://pubmed.ncbi.nlm.nih.gov/40801974/). *Cerebellum*. [Review / Meta-Analysis]
Li X (2025). [PMID: 35817592](https://pubmed.ncbi.nlm.nih.gov/35817592/). *Ear Nose Throat J*. [Epidemiology / Natural History]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613855

Orphanet

European rare disease database

Orphanet:211067

GARD

Genetic and Rare Diseases Info Center

GARD:17113

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 CACNB4, 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 5

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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