Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations

Daniel Carranza Rojo; A Simon Harvey; Xenia Iona; Leanne M Dibbens; John A Damiano; Todor Arsov; Deepak Gill; Jeremy L Freeman; Richard J Leventer; Angela Vincent; Samuel F Berkovic; Jacinta M McMahon; Ingrid E Scheffer

doi:10.1016/j.eplepsyres.2012.02.007

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations

Epilepsy Res. 2012 Jun;100(1-2):194-8. doi: 10.1016/j.eplepsyres.2012.02.007. Epub 2012 Mar 3.

Authors

Daniel Carranza Rojo¹, A Simon Harvey, Xenia Iona, Leanne M Dibbens, John A Damiano, Todor Arsov, Deepak Gill, Jeremy L Freeman, Richard J Leventer, Angela Vincent, Samuel F Berkovic, Jacinta M McMahon, Ingrid E Scheffer

Affiliation

¹ Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.

PMID: 22386634
DOI: 10.1016/j.eplepsyres.2012.02.007

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

NAV1.1 Voltage-Gated Sodium Channel
SCN1A protein, human