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episodic kinesigenic dyskinesia 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

episodic kinesigenic dyskinesia 3

MONDO:0859380

Overview

GeneticsAutosomal dominant · TMEM151A (chr 11)

ResearchLimited published research (7 articles)

Clinical Presentation

Features include very common findings: Dystonia; and common findings: Involuntary movements. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Dystonia, Involuntary movements

Explore clinical features

Genetic Landscape

TMEM151A function has not been fully characterized.

Episodic kinesigenic dyskinesia 3 is associated with mutations in the TMEM151A gene on chromosome 11.

Diagnosis

Genetic testing for TMEM151A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 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 kinesigenic dyskinesia 3.

7 publications have been identified in PubMed for episodic kinesigenic dyskinesia 3. Research spans Review / Meta-Analysis (43%), Epidemiology / Natural History (43%), and Case Report / Case Series (14%).

Recent Publications

Liatis T (2026). [PMID: 41881802](https://pubmed.ncbi.nlm.nih.gov/41881802/). *The Journal of small animal practice*. [Case Report / Case Series]
Li M (2026). [PMID: 41553070](https://pubmed.ncbi.nlm.nih.gov/41553070/). *FASEB journal : official publication of the Federation of American Societies for Experimental Biology*. [Review / Meta-Analysis]
Koyutourk B (2026). [PMID: 42065819](https://pubmed.ncbi.nlm.nih.gov/42065819/). *J Community Genet*. [Epidemiology / Natural History]
Sun Y (2026). [PMID: 42168455](https://pubmed.ncbi.nlm.nih.gov/42168455/). *Neurol Sci*. [Review / Meta-Analysis]
Harvey S (2025). [PMID: 40132247](https://pubmed.ncbi.nlm.nih.gov/40132247/). *European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:38 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620245

Questions for Your Care Team

→Should I pursue genetic testing for TMEM151A, 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 kinesigenic dyskinesia 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team