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episodic ataxia, type 9 (EA9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

episodic ataxia, type 9

MONDO:0030064

Also known as:EA9

Overview

GeneticsAutosomal dominant · SCN2A (chr 2)

OnsetNEONATAL

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 always present findings: Bilateral tonic-clonic seizure, Encephalopathy, Status epilepticus, and Vomiting and others; and common findings: Paroxysmal vertigo. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Bilateral tonic-clonic seizure, Encephalopathy, Status epilepticus

Genetic Landscape

SCN2A function has not been fully characterized.

Episodic ataxia, type 9 is associated with mutations in the SCN2A gene on chromosome 2.

Diagnosis

Genetic testing for SCN2A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for episodic ataxia, type 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 13 always present features, 1 common feature.

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.

No clinical trials have been registered for episodic ataxia, type 9.

8 publications have been identified in PubMed for episodic ataxia, type 9. Research spans Diagnostic / Biomarker (38%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (25%).

Recent Publications

Chinigioli M (2026). [PMID: 41370964](https://pubmed.ncbi.nlm.nih.gov/41370964/). *European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society*. [Diagnostic / Biomarker]
Hammer MF (2025). [PMID: 41151066](https://pubmed.ncbi.nlm.nih.gov/41151066/). *Biosci Rep*. [Review / Meta-Analysis]
Li X (2025). [PMID: 35817592](https://pubmed.ncbi.nlm.nih.gov/35817592/). *Ear, nose, & throat journal*. [Diagnostic / Biomarker]
Scott KEJ (2025). [PMID: 40884529](https://pubmed.ncbi.nlm.nih.gov/40884529/). *Epilepsia*. [Review / Meta-Analysis]
Indelicato E (2025). [PMID: 40879304](https://pubmed.ncbi.nlm.nih.gov/40879304/). *Movement disorders : official journal of the Movement Disorder Society*. [Epidemiology / Natural History]

Data assembled from 5 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:618924

Questions for Your Care Team

→Should I pursue genetic testing for SCN2A, 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 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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