familial focal epilepsy with variable foci
Findings
No curated finding names familial focal epilepsy with variable foci yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.
Definition from the Mondo Disease Ontology (MONDO:0020310), read 2026-09-29. CC BY 4.0.
Features
26 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 with focal epileptiform dischargesHPOHP:0011185
- Very frequent (80% to 99% of cases)
- Focal-onset seizureHPOHP:0007359
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
- Interictal EEG abnormalityHPOHP:0025373
- Frequent (30% to 79% of cases)
- Nocturnal seizuresHPOHP:0031951
- Frequent (30% to 79% of cases)
- Atypical behavior
Genes
3 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
Other names
3 names
Resolves to: familial focal epilepsy with variable foci
- Also called
- epilepsy, familial focal, with variable focifamilial partial epilepsy with variable fociFFEVF