Epilepsy, Familial Focal, with Variable Foci 4 (FFEVF4)

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OMIM 57 617935 MedGen 42 CN244552

MeSH 44 D004828 SNOMED-CT via HPO 69 162294008 229721007 29164008 62415009 128613002 246545002 313307000 84757009 91175000 224958001 more

UniProtKB/Swiss-Prot : ⁷⁵ Epilepsy, familial focal, with variable foci 4: An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. FFEVF4 is characterized by onset of focal seizures in the first years of life.

MalaCards based summary : Epilepsy, Familial Focal, with Variable Foci 4, is also known as ffevf4. An important gene associated with Epilepsy, Familial Focal, with Variable Foci 4 is SCN3A (Sodium Voltage-Gated Channel Alpha Subunit 3). Affiliated tissues include brain, temporal lobe and occipital lobe, and related phenotypes are seizures and global developmental delay

OMIM : ⁵⁷ FFEVF4 is an autosomal dominant seizure disorder characterized by onset of focal seizures in the first years of life. Some patients may have secondary generalization and/or mild developmental deficits (summary by Vanoye et al., 2014). For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364). (617935)

Clinical features from OMIM:

617935

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