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epilepsy, familial adult myoclonic, 1 (FAME1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy, familial adult myoclonic, 1

MONDO:0010985

Also known as:FAME1benign adult familial myoclonic epilepsy 1cortical myoclonic tremor with epilepsy, familial, 1

Overview

GeneticsAutosomal dominant · SAMD12 (chr 8)

ResearchLimited published research (9 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: Enhancement of the C-reflex and Giant somatosensory evoked potentials; and common findings: Bilateral tonic-clonic seizure. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Intellectual disability

Explore clinical features

Genetic Landscape

SAMD12 function has not been fully characterized.

Epilepsy, familial adult myoclonic, 1 is associated with mutations in the SAMD12 gene on chromosome 8.

Diagnosis

Genetic testing for SAMD12 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 very common features, 1 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, 1.

9 publications have been identified in PubMed for epilepsy, familial adult myoclonic, 1. Research spans Basic Science / Preclinical (56%), Review / Meta-Analysis (22%), and Case Report / Case Series (22%).

Recent Publications

Rakwongkhachon S (2026). [PMID: 41874439](https://pubmed.ncbi.nlm.nih.gov/41874439/). *Epilepsia*. [Basic Science / Preclinical]
Yamanaka H (2026). [PMID: 41455236](https://pubmed.ncbi.nlm.nih.gov/41455236/). *Clin Neurophysiol*. [Basic Science / Preclinical]
Lu Y (2025). [PMID: 40747611](https://pubmed.ncbi.nlm.nih.gov/40747611/). *Epilepsia*. [Review / Meta-Analysis]
Chen X (2025). [PMID: 38467733](https://pubmed.ncbi.nlm.nih.gov/38467733/). *Eur J Hum Genet*. [Basic Science / Preclinical]
Ishiura H (2025). [PMID: 40571639](https://pubmed.ncbi.nlm.nih.gov/40571639/). *Rinsho Shinkeigaku*. [Review / Meta-Analysis]

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:601068

GARD

Genetic and Rare Diseases Info Center

GARD:18082

Questions for Your Care Team

→Should I pursue genetic testing for SAMD12, 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, 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team