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epilepsy, progressive myoclonic, 12 (EPM12) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy, progressive myoclonic, 12

MONDO:0030936

Also known as:EPM12

Overview

GeneticsAutosomal recessive · SLC7A6OS (chr 16)

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: Difficulty walking (gait disturbance), Ataxia, and Sudden, brief involuntary muscle jerks (myoclonus); and very common findings: Bilateral tonic-clonic seizure. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Bilateral tonic-clonic seizure, Difficulty walking (gait disturbance), Dysarthria

Genetic Landscape

SLC7A6OS function has not been fully characterized.

Epilepsy, progressive myoclonic, 12 is associated with mutations in the SLC7A6OS gene on chromosome 16.

Diagnosis

Genetic testing for SLC7A6OS is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for epilepsy, progressive myoclonic, 12 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 4 common features.

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 epilepsy, progressive myoclonic, 12.

22 publications have been identified in PubMed for epilepsy, progressive myoclonic, 12. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	7	32%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619191

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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epilepsy, progressive myoclonic, 12

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

epilepsy, progressive myoclonic, 12

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications