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hereditary episodic ataxia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary episodic ataxia

MONDO:0016227

Also known as:episodic ataxiaIsaacs syndromeea syndrome

Find Clinical TrialsTrials

Overview

Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.

OnsetNEONATAL, INFANTILE

Clinical Trials1 registered · 1 recruiting

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.

No HPO annotations are available for this condition.

Age of onset: newborn period, infancy.

GeneReviews

Clinical Guidance

Episodic ataxia type 1 (EA1), first described by , is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. Typical attacks in individuals with EA1. In addition to the features noted in , Clinical manifestations, individuals may experience the following symptoms:

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus diagnostic criteria for episodic ataxia type 1 (EA1) have been published.

Suggestive Findings

Episodic ataxia type 1 (EA1) should be suspected in individuals with the following clinical, imaging, and laboratory findings.

Clinical manifestations

Episodic attacks of:
Generalized ataxia, loss of balance, and jerking movements of the head, arms, and legs

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for hereditary episodic ataxia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and therapeutic needs in an individual diagnosed with episodic ataxia type 1, the evaluations summarized (if not already completed) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Episodic Ataxia Type 1

Prognosis

GeneReviews

Surveillance Guidelines

Surveillance should include annual neurologic examination.

Source: GeneReviews — "Episodic Ataxia Type 1"

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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.

179 publications have been identified in PubMed for hereditary episodic ataxia. Kisho has analyzed 141 by research type. Research spans Review / Meta-Analysis (28%), Case Report / Case Series (25%), and Basic Science / Preclinical (21%).

Research Type	Count	% of Total
Research summaries	40

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:211062

GARD

Genetic and Rare Diseases Info Center

GARD:20457

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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Kisho

hereditary episodic ataxia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

hereditary episodic ataxia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications