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familial focal epilepsy with variable foci

Disease Summary
Associated Targets (4)
Tbio

3

Tclin

1


GARD Rare
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0020310:  familial focal epilepsy with variable foci
DC:0000729: 
GARD:0013295: 
MESH:C565785: 
OMIMPS:604364: 
Orphanet:98820: 
SCTID:764522009: 
UMLS:CN207131: