Epilepsy, familial focal, with variable foci 1: genes and variants
Epilepsy, familial focal, with variable foci 1 is linked to 1 analyzed protein (DEPDC5). 1 DNA variants are known to cause it; 75 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Epilepsy, familial focal, with variable foci 1
DEPDC5: GATOR1 complex protein DEPDC5
It is part of the GATOR1 complex, which restrains mTORC1 activity when amino acids are limited. Loss-of-function variants cause focal epilepsy with variable penetrance and can contribute to focal cortical dysplasia through somatic second-hit events.
1 disease-causing and 75 uncertain variants in DEPDC5 are linked to Epilepsy, familial focal, with variable foci 1.
Weakly linked (only a few uncertain records): CLCNKB.
Known disease-causing variants in Epilepsy, familial focal, with variable foci 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DEPDC5 G839V | 839 | Disease-causing (★) |
Diseases related to Epilepsy, familial focal, with variable foci 1
- Epilepsy, also linked to DEPDC5
- Autosomal dominant nocturnal frontal lobe epilepsy, also linked to DEPDC5
- Familial focal epilepsy with variable foci, also linked to DEPDC5
Frequently asked questions
Which genes are linked to Epilepsy, familial focal, with variable foci 1?
In CATVariant, Epilepsy, familial focal, with variable foci 1 is linked to 1 analyzed protein: DEPDC5 (GATOR1 complex protein DEPDC5).
How many genetic variants are linked to Epilepsy, familial focal, with variable foci 1?
113 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 75 are of uncertain significance or have conflicting reports.
Which uncertain variants in Epilepsy, familial focal, with variable foci 1 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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