Details of Disease

General Information of Disease (ID: DISP4DGS)

Disease Name Epilepsy, familial focal, with variable foci 2
Synonyms
epilepsy, familial focal, with variable foci 2; FFEVF2; epilepsy, familial focal, with variable foci type 2; epilepsy, familial focal, with variable foci caused by mutation in NPRL2; epilepsy, familial focal, with variable foci 2; FFEVF2; NPRL2 epilepsy, familial focal, with variable foci
Definition Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.
Disease Hierarchy
DIS50BKW: Familial focal epilepsy with variable foci
DISP4DGS: Epilepsy, familial focal, with variable foci 2
Disease Identifiers
MONDO ID
MONDO_0014924
UMLS CUI
C4310709
OMIM ID
617116
MedGen ID
934676

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
NPRL2 OTOB10MO Strong Autosomal dominant [1]
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References

1 Regulation of Hematopoiesis and Methionine Homeostasis by mTORC1 Inhibitor NPRL2. Cell Rep. 2015 Jul 21;12(3):371-9. doi: 10.1016/j.celrep.2015.06.042. Epub 2015 Jul 9.