generalized epilepsy with febrile seizures plus 9

A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2.

Signs and symptoms

• Febrile seizure (within the age range of 3 months to 6 years)
• Bilateral tonic-clonic seizure
• Tonic seizure
• Generalized non-motor (absence) seizure
• Global developmental delay
• Focal impaired awareness seizure
• Atonic seizure
• Delayed speech and language development

Also known as: GEFS+9; GEFSP9; generalised epilepsy with febrile seizures plus 9; generalised epilepsy with febrile seizures plus type 9; generalized epilepsy with febrile seizures plus type 9