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epilepsy, progressive myoclonic, 11 (EPM11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy, progressive myoclonic, 11

MONDO:0030034

Also known as:EPM11

Overview

GeneticsAutosomal dominant · SEMA6B (chr 19)

OnsetINFANTILE, CHILDHOOD

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: Delayed speech and language development, Seizure, Global developmental delay, and Muscle stiffness (rigidity) and others; and common findings: Delayed ability to walk and Overactive reflexes (hyperreflexia). 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Delayed speech and language development, Loss of previously acquired skills (developmental regression), Seizure

Genetic Landscape

SEMA6B function has not been fully characterized.

Epilepsy, progressive myoclonic, 11 is associated with mutations in the SEMA6B gene on chromosome 19.

Diagnosis

Genetic testing for SEMA6B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for epilepsy, progressive myoclonic, 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 2 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, 11.

29 publications have been identified in PubMed for epilepsy, progressive myoclonic, 11. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (28%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Patient case studies	8	28%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618876

Questions for Your Care Team

→Should I pursue genetic testing for SEMA6B, 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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epilepsy, progressive myoclonic, 11

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, 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications