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generalized epilepsy with febrile seizures plus, type 9
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.
Uniprot Description An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities.
Mondo Term and Equivalent IDs
MONDO:0014517: generalized epilepsy with febrile seizures plus, type 9
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111301
OMIM:616172
UMLS:C4015395
MONDO:0014517
High level summary of knowledge for a disease, including descriptions and datasource references.