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epilepsy, familial adult myoclonic, 7 (FAME7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy, familial adult myoclonic, 7

MONDO:0054847

Also known as:FAME7benign Adult Familial myoclonic epilepsy 7cortical myoclonic tremor with epilepsy, Familial, 7

Overview

GeneticsAutosomal dominant · RAPGEF2 (chr 4)

Clinical Presentation

Features include sometimes findings: Seizure. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Seizure, Myoclonic tremor

Explore clinical features

Genetic Landscape

RAPGEF2 function has not been fully characterized.

Epilepsy, familial adult myoclonic, 7 is associated with mutations in the RAPGEF2 gene on chromosome 4.

Diagnosis

Genetic testing for RAPGEF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for epilepsy, familial adult myoclonic, 7 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, 7.

38 publications have been identified in PubMed for epilepsy, familial adult myoclonic, 7. Research spans Epidemiology / Natural History (27%), Basic Science / Preclinical (24%), and Clinical Trial Publication (19%).

Research Type	Count	% of Total
Disease patterns and progression	10	27%

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618075

Questions for Your Care Team

→Should I pursue genetic testing for RAPGEF2, 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, familial adult myoclonic, 7

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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