Details of Disease

General Information of Disease (ID: DIS50BKW)

Disease Name Familial focal epilepsy with variable foci
Synonyms FFEVF; epilepsy, familial focal, with variable foci; familial partial epilepsy with variable foci; 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.
Disease Hierarchy
DISHLPYW: Familial partial epilepsy
DISBRSHM: Variable age onset epilepsy
DIS50BKW: Familial focal epilepsy with variable foci
Disease Identifiers
MONDO ID
MONDO_0020310
MESH ID
C565785
UMLS CUI
C1858477
MedGen ID
348951
Orphanet ID
98820
SNOMED CT ID
764522009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DEPDC5 OTE70JLY Supportive Autosomal dominant [1]
NPRL3 OTS4HE8E Supportive Autosomal dominant [2]
NPRL2 OTOB10MO Moderate Autosomal dominant [2]
AKAP6 OTN59BZS Strong Biomarker [3]
SYN3 OTSGYNA5 Strong Biomarker [3]
------------------------------------------------------------------------------------

References

1 Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31.
2 Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12.
3 Predicting disease genes using protein-protein interactions.J Med Genet. 2006 Aug;43(8):691-8. doi: 10.1136/jmg.2006.041376. Epub 2006 Apr 12.