Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

epilepsy, familial adult myoclonic, 6 (FAME6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy, familial adult myoclonic, 6

MONDO:0054846

Also known as:FAME6benign Adult Familial myoclonic epilepsy 6cortical myoclonic tremor with epilepsy, Familial, 6

Overview

GeneticsAutosomal dominant · TNRC6A (chr 16)

Clinical Presentation

Features include: Myoclonic tremor.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Myoclonic tremor

Explore clinical features

Genetic Landscape

TNRC6A function has not been fully characterized.

Epilepsy, familial adult myoclonic, 6 is associated with mutations in the TNRC6A gene on chromosome 16.

Diagnosis

Genetic testing for TNRC6A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for epilepsy, familial adult myoclonic, 6 has been reported in the published literature.

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, familial adult myoclonic, 6.

42 publications have been identified in PubMed for epilepsy, familial adult myoclonic, 6. Research spans Epidemiology / Natural History (38%), Clinical Trial Publication (24%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Disease patterns and progression	16	38%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618074

Questions for Your Care Team

→Should I pursue genetic testing for TNRC6A, 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?

← Back to All Diseases

epilepsy, familial adult myoclonic, 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications