Details of Disease

General Information of Disease (ID: DISYBQ1A)

Disease Name Epilepsy, familial focal, with variable foci 4
Synonyms epilepsy, FAMILIAL focal, with variable foci 4; FFEVF4
Disease Hierarchy
DIS50BKW: Familial focal epilepsy with variable foci
DISYBQ1A: Epilepsy, familial focal, with variable foci 4
Disease Identifiers
MONDO ID
MONDO_0054776
UMLS CUI
C4693694
OMIM ID
617935
MedGen ID
1644614

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN3A TTAXZ0K Strong Autosomal dominant [1]
SCN3A TTAXZ0K Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN3A OT4C2LCB Strong Autosomal dominant [1]
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References

1 Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neurosci Lett. 2008 Mar 5;433(1):65-70. doi: 10.1016/j.neulet.2007.12.064. Epub 2008 Jan 11.
2 SCN3A deficiency associated with increased seizure susceptibility.Neurobiol Dis. 2017 Jun;102:38-48. doi: 10.1016/j.nbd.2017.02.006. Epub 2017 Feb 22.