epilepsy, familial focal, with variable foci 1
Findings
No curated finding names epilepsy, familial focal, with variable foci 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.
Definition from the Mondo Disease Ontology (MONDO:0024556), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Focal cortical dysplasia type IIHPOHP:0032051
- 4 of 7 reported patients
- Focal cortical dysplasia type IHPOHP:0032047
- 2 of 7 reported patients
- Focal cortical dysplasia type IIaHPOHP:0032052
- 2 of 7 reported patients
- Focal cortical dysplasiaHPOHP:0032046
- HemimegalencephalyHPOHP:0007206
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DEPDC5HGNC:18423
- Definitive · Ambry Genetics · Autosomal dominant · 2015
- Definitive · Illumina · Autosomal dominant · 2017
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: epilepsy, familial focal, with variable foci 1
- Also called
- DEPDC5 epilepsy, familial focal, with variable fociepilepsy, familial focal, with variable foci caused by mutation in DEPDC5