Genetic Epilepsy

Gene: STX1B

Green List (high evidence)

Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities.

Multiple unrelated individuals reported.

Created: 23 Mar 2022, 5:36 a.m. | Last Modified: 23 Mar 2022, 5:36 a.m.

Panel Version: 0.1500

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172

Publications

• 25362483
• 33677401