Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
Carranza Rojo D., Harvey AS., Iona X., Dibbens LM., Damiano JA., Arsov T., Gill D., Freeman JL., Leventer RJ., Vincent A., Berkovic SF., McMahon JM., Scheffer IE.
Two distinctive epileptic encephalopathies, febrile infection-related epilepsy syndrome (FIRES) and Dravet syndrome (DS), present with febrile status epilepticus in a normal child followed by refractory focal seizures and cognitive decline although there are differentiating features. Abnormalities of the sodium channel gene SCN1A are found in 75% of DS patients. We found no SCN1A mutations or copy number variants in 10 patients with FIRES. Other genetic etiologies deserve consideration.