epilepsy, familial adult myoclonic, 1
MONDO:0010985Mondo
Findings
No curated finding names epilepsy, familial adult myoclonic, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Enhancement of the C-reflexHPOHP:0001340
- 61 of 71 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 79 of 105 reported patients
- TremorHPOHP:0001337
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SAMD12HGNC:31750
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Limited · PanelApp Australia · Semidominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: epilepsy, familial adult myoclonic, 1
- Also called
- FAME1