FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: epilepsy, familial focal, with variable foci
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General Information
Name
epilepsy, familial focal, with variable foci
FlyBase ID
FBhh0001619
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as familial focal epilepsy with variable foci (FFEVF). FFEVF is a genetically heterogeneous disorder, with multiple genes and mapped loci. A list of FFEVF subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below.

[updated Feb. 2025 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: epilepsy, familial focal, with variable foci
OMIM report
Symptoms and phenotype

Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families. Seizures associated with FFEVF can begin at any time from infancy to adulthood. The seizures are described as focal or partial, which means they begin in one region of the brain and do not cause a loss of consciousness. [MedlinePlus, Familial focal epilepsy with variable foci; 2025.02.19]

(FlyBase Curators, 2013-)

Familial focal epilepsy with variable foci (FFEVF) is a form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD) (summary by Ricos et al., 2016; pubmed:26505888). [from MIM:617118; 2025.02.19]

(OMIM, 2013-)
Genetics

Subtypes described to date exhibit autosomal dominant inheritance; incomplete penetrance is frequently observed. [from MIM:617118; 2025.02.19]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
epilepsy, partial, with variable foci
FFEVF
FPEVF
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (2)