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FB2026_01
,
released March 12, 2026
This report describes epilepsy, familial focal, with variable foci 2 (FFEVF1); FFEVF1 exhibits autosomal dominant inheritance. The human gene implicated in this disease is NPRL2, which encodes a component of the GATOR1 complex; the GATOR1 complex is involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. There is a single orthologous gene in Drosophila, Dmel\Nprl2, for which a number genetic reagents have been generated, including an amorphic allele, RNAi-targeting constructs, and overexpression constructs.
A UAS construct of the wild-type Hsap\DEPDC5 gene has been introduced into flies, but has not been characterized in the context of disease.
Animals homozygous for an amorphic allele of Dmel\Iml1 die as pharate adults. Systemic knockdown of Iml1, effected by RNAi, results in epileptic-like behaviors in adults, as assayed by the bang-sensitive test.
[updated Mar. 2025 by FlyBase; FBrf0222196]
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]
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]
[EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1](https://omim.org/entry/604364)
[DEP DOMAIN-CONTAINING PROTEIN 5; DEPDC5](https://omim.org/entry/614191)
Familial focal epilepsy with variable foci-1 (FFEVF1) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. [from MIM:604364; 2025.02.24]
Familial focal epilepsy with variable foci-1 (FFEVF1) is caused by heterozygous mutation in the DEPDC5 gene. [from MIM:604364; 2025.02.24]
DEPDC5 encodes a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. [GeneCards, DEPDC5; 2025.03.02]
One to one: 1 human gene to 1 Drosophila gene.
High-scoring ortholog of human DEPDC5 (1 Drosophila to 1 human).