title: Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
abstract: 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.
authors.affiliation: Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Daniel
authors.initials: D
authors.lastname: Carranza Rojo
authors.forename: A Simon
authors.initials: AS
authors.lastname: Harvey
authors.forename: Xenia
authors.initials: X
authors.lastname: Iona
authors.forename: Leanne M
authors.initials: LM
authors.lastname: Dibbens
authors.forename: John A
authors.initials: JA
authors.lastname: Damiano
authors.forename: Todor
authors.initials: T
authors.lastname: Arsov
authors.forename: Deepak
authors.initials: D
authors.lastname: Gill
authors.forename: Jeremy L
authors.initials: JL
authors.lastname: Freeman
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Leventer
authors.forename: Angela
authors.initials: A
authors.lastname: Vincent
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Jacinta M
authors.initials: JM
authors.lastname: McMahon
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004831:Epilepsies, Myoclonic / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D003294:Seizures, Febrile / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human