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Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.
Features include very common findings: Sudden, brief involuntary muscle jerks (myoclonus); and common findings: Bilateral tonic-clonic seizure and Migraine. 14 total HPO annotations.
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:53 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 8 | Bilateral tonic-clonic seizure, Migraine, Ataxia |
STARD7 function has not been fully characterized.
Epilepsy, familial adult myoclonic, 2 is associated with mutations in the STARD7 gene on chromosome 2.
Genetic testing for STARD7 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 very common feature, 2 common features.
No clinical trials have been registered for epilepsy, familial adult myoclonic, 2.
15 publications have been identified in PubMed for epilepsy, familial adult myoclonic, 2. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (21%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 4 | 29% |
Research summaries | 3 | 21% |
Laboratory research | 3 | 21% |
Patient case studies | 2 | 14% |
Clinical study results | 2 | 14% |
Dlugos DJ (2026). [PMID: 41133912](https://pubmed.ncbi.nlm.nih.gov/41133912/). *Epilepsia*. [Clinical Trial Publication]
Gburek-Augustat J (2026). [PMID: 41665440](https://pubmed.ncbi.nlm.nih.gov/41665440/). *Epilepsia Open*. [Review / Meta-Analysis]
Wilms LK (2026). [PMID: 41066202](https://pubmed.ncbi.nlm.nih.gov/41066202/). *Epilepsia*. [Clinical Trial Publication]
Cortesi PA (2026). [PMID: 41388477](https://pubmed.ncbi.nlm.nih.gov/41388477/). *Epilepsia Open*. [Epidemiology / Natural History]
Kühnel T (2025). [PMID: 40200849](https://pubmed.ncbi.nlm.nih.gov/40200849/). *Mov Disord*. [Basic Science / Preclinical]
Cossu A (2025). [PMID: 40347411](https://pubmed.ncbi.nlm.nih.gov/40347411/). *Epilepsia*. [Epidemiology / Natural History]
Lu Y (2025). [PMID: 40747611](https://pubmed.ncbi.nlm.nih.gov/40747611/). *Epilepsia*. [Review / Meta-Analysis]
Urabe H (2025). [PMID: 41219789](https://pubmed.ncbi.nlm.nih.gov/41219789/). *BMC Med Genomics*. [Case Report / Case Series]
Asahi T (2025). [PMID: 40349691](https://pubmed.ncbi.nlm.nih.gov/40349691/). *Stereotact Funct Neurosurg*. [Case Report / Case Series]
Ishiura H (2025). [PMID: 40571639](https://pubmed.ncbi.nlm.nih.gov/40571639/). *Rinsho Shinkeigaku*. [Review / Meta-Analysis]