benign adult familial myoclonic epilepsy
Findings
No curated finding names benign adult familial myoclonic epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
Definition from the Mondo Disease Ontology (MONDO:0019448), read 2026-09-29. CC BY 4.0.
Features
8 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.
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- Hand tremorHPOHP:0002378
- Very frequent (80% to 99% of cases)
- MyoclonusHPOHP:0001336
- Very frequent (80% to 99% of cases)
- Focal-onset seizureHPOHP:0007359
- Frequent (30% to 79% of cases)
- Generalized-onset seizureHPOHP:0002197
- Frequent (30% to 79% of cases)
- Amaurosis fugaxHPOHP:0100576
- Occasional (5% to 29% of cases)
- HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
Genes
6 genes
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.
- ADRA2BHGNC:282
- Supportive · Orphanet · Autosomal dominant · 2021
- CNTN2HGNC:2172
- Supportive · Orphanet · Autosomal dominant · 2021
- CTNND2HGNC:2516
- Supportive · Orphanet · Autosomal dominant · 2021
- MARCHF6HGNC:30550
- Supportive · Orphanet · Autosomal dominant · 2021
- SAMD12HGNC:31750
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
8 names
Resolves to: benign adult familial myoclonic epilepsy
- Also called
- ADCMEautosomal dominant cortical myoclonus and epilepsyBAFMEbenign adult familial myoclonus epilepsyFAMEfamilial adult myoclonic epilepsyfamilial cortical myoclonic tremor and epilepsyFCMTE