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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.

Original publication

DOI

10.1016/j.eplepsyres.2012.02.007

Type

Journal article

Journal

Epilepsy Res

Publication Date

06/2012

Volume

100

Pages

194 - 198

Keywords

Adolescent, Adult, Child, Preschool, Diagnosis, Differential, Epilepsies, Myoclonic, Humans, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Seizures, Febrile, Young Adult