Details of Disease

General Information of Disease (ID: DISEFU4U)

Disease Name Generalized epilepsy with febrile seizures plus, type 1
Synonyms Gefs+, type 1; GEFSP1; generalized epilepsy with febrile seizures plus, type 1
Disease Hierarchy
DISJE0UU: Generalized epilepsy with febrile seizures plus
DISEFU4U: Generalized epilepsy with febrile seizures plus, type 1
Disease Identifiers
MONDO ID
MONDO_0011416
MESH ID
C565809
UMLS CUI
C1858672
OMIM ID
604233
MedGen ID
348994

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
SCN1B OTGD78J3 Definitive Autosomal dominant [1]
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References

1 Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet. 1998 Aug;19(4):366-70. doi: 10.1038/1252.