epilepsy, familial adult myoclonic, 2
Findings
No curated finding names epilepsy, familial adult myoclonic, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.
Definition from the Mondo Disease Ontology (MONDO:0011930), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
6 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.
- MyoclonusHPOHP:0001336
- 195 of 227 reported patients
- MigraineHPOHP:0002076
- 42 of 130 reported patients
- Intellectual disabilityHPOHP:0001249
- 9 of 193 reported patients
- DementiaHPOHP:0000726
- 5 of 199 reported patients
- AtaxiaHPOHP:0001251
- 3 of 201 reported patients
- TremorHPOHP:0001337
Genes
2 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.
Where it sits
- A kind of
Other names
3 names
Resolves to: epilepsy, familial adult myoclonic, 2
- Also called
- ADRA2B epilepsy, familial adult myoclonicepilepsy, familial adult myoclonic caused by mutation in ADRA2Bepilepsy, familial adult myoclonic, type 2