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GTR Home > Conditions/Phenotypes > Epilepsy, familial focal, with variable foci 2

Epilepsy, familial focal, with variable foci 2

Summary

Familial focal epilepsy with variable foci (FFEVF) is 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 (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016). For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364). [from OMIM]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FFEVF2, NPR2, NPR2L, TUSC4, NPRL2
    Summary: NPR2 like, GATOR1 complex subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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