Details of Disease

General Information of Disease (ID: DISTVY3H)

Disease Name Generalized epilepsy with febrile seizures plus, type 9
Synonyms
Gefs+, type 9; GEFSP9; generalised epilepsy with febrile seizures plus caused by mutation in STX1B; generalised epilepsy with febrile seizures plus caused by mutation in STX1b; STX1B generalized epilepsy with febrile seizures plus; generalized epilepsy with febrile seizures plus caused by mutation in STX1B; generalized epilepsy with febrile seizures plus, type 9; STX1b generalised epilepsy with febrile seizures plus; generalized epilepsy with febrile seizures plus caused by mutation in STX1b; STX1B generalised epilepsy with febrile seizures plus; STX1b generalized epilepsy with febrile seizures plus
Definition Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.
Disease Hierarchy
DISJE0UU: Generalized epilepsy with febrile seizures plus
DISTVY3H: Generalized epilepsy with febrile seizures plus, type 9
Disease Identifiers
MONDO ID
MONDO_0014517
UMLS CUI
C4015395
OMIM ID
616172
MedGen ID
863832

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
STX1B OTSW59X0 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2.