Details of Disease | DrugMAP

General Information of Disease (ID: DIS50UO4)

Disease Name	Epilepsy, familial focal, with variable foci 1
Synonyms	epilepsy, familial focal, with variable foci; epilepsy, partial, with variable foci; FFEVF1; epilepsy, familial focal, with variable foci 1; DEPDC5 epilepsy, familial focal, with variable foci; epilepsy, familial focal, with variable foci caused by mutation in DEPDC5
Definition	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.
Disease Hierarchy	DIS50BKW: Familial focal epilepsy with variable foci DIS50UO4: Epilepsy, familial focal, with variable foci 1
Disease Identifiers	MONDO ID MONDO_0024556 UMLS CUI C4551983 OMIM ID 604364 MedGen ID 1641798

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DEPDC5	OTE70JLY	Definitive	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.