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, 3 (FAME3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy, familial adult myoclonic, 3

MONDO:0013322

Also known as:FAME3cortical myoclonic tremor with epilepsy, familial, 3

Overview

GeneticsAutosomal dominant · MARCHF6 (chr 5)

OnsetADULT

ResearchLimited published research (6 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 very common findings: Tremor. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Bilateral tonic-clonic seizure, Difficulty walking (gait disturbance), Focal-onset seizure

Age of onset: adulthood.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MARCHF6 encodes membrane associated ring-CH-type finger 6 (910 aa). Endoplasmic reticulum membrane-associated E3 ubiquitin ligase that plays a critical role in mitigating endoplasmic reticulum stress, the regulation of cholesterol and lipid homeostasis, and ferroptosis. Highest expression in Ovary (64.6 TPM) and Brain Cerebellar Hemisphere (58.1 TPM).

Epilepsy, familial adult myoclonic, 3 is associated with mutations in the MARCHF6 gene on chromosome 5.

MARCHF6 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for MARCHF6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very 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 epilepsy, familial adult myoclonic, 3.

6 publications have been identified in PubMed for epilepsy, familial adult myoclonic, 3. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Perera BLA (2025). [PMID: 40788430](https://pubmed.ncbi.nlm.nih.gov/40788430/). *Neurogenetics*. [Case Report / Case Series]
Ishiura H (2025). [PMID: 40571639](https://pubmed.ncbi.nlm.nih.gov/40571639/). *Rinsho Shinkeigaku*. [Review / Meta-Analysis]
Lu Y (2025). [PMID: 40747611](https://pubmed.ncbi.nlm.nih.gov/40747611/). *Epilepsia*. [Review / Meta-Analysis]
Urabe H (2025). [PMID: 41219789](https://pubmed.ncbi.nlm.nih.gov/41219789/). *BMC Med Genomics*. [Case Report / Case Series]
Kühnel T (2025). [PMID: 40200849](https://pubmed.ncbi.nlm.nih.gov/40200849/). *Mov Disord*. [Basic Science / Preclinical]

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:613608

GARD

Genetic and Rare Diseases Info Center

GARD:18084

Questions for Your Care Team

→Should I pursue genetic testing for MARCHF6, 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, 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team