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expandfamilial partial epilepsy (MONDO:0017704)
Parent Node:
expandvariable age onset epilepsy (MONDO:0100036)
..Starting node
..expandfamilial focal epilepsy with variable foci ()

       Child Nodes:
........expandepilepsy, familial focal, with variable foci ()



 Sister Nodes: 
..expandfamilial focal epilepsy with variable foci ()
..expandprogressive epilepsy and/or ataxia with myoclonus as a major feature ()
..expandprogressive myoclonic epilepsy ()
..expandreflex epilepsy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:20310
Name:familial focal epilepsy with variable foci
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.
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Synonyms:familial partial epilepsy with variable foci; FFEVF
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