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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
DOID:0111301: 
UMLS:C4015395: