familial focal epilepsy with variable foci
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:0017704
familial partial epilepsy
is_a
MONDO:0800492
variable-age onset focal epilepsy syndrome
is_a
FFEVF
exact
epilepsy, familial focal, with variable foci
exact
familial focal epilepsy with variable foci
exact
familial partial epilepsy with variable foci
exact
SPBC26H8.04c SPBC543.04 SPAC23H3.03c