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

D Carranza Rojo; A Simon Harvey; X Iona; LM Dibbens; JA Damiano; T Arsov; D Gill; JL Freeman; RJ Leventer; A Vincent; SF Berkovic; JM McMahon; IE Scheffer

Journal article

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

D Carranza Rojo, A Simon Harvey, X Iona, LM Dibbens, JA Damiano, T Arsov, D Gill, JL Freeman, RJ Leventer, A Vincent, SF Berkovic, JM McMahon, IE Scheffer

Epilepsy Research | Published : 2012

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. © 2012.

University of Melbourne Researchers

Rick Leventer Author

Sam Berkovic Author

Ingrid Scheffer Author

Simon Harvey Author

Grants

Funding Acknowledgements

We thank the patients and their families for participating in our research. DCR received funding from the Fondo de Investigaciones Sanitarias, Instituto Carlos III, Spain. JMM, XI, LD, TA, JD, SFB, JCM and IES were supported by a Program grant from the National Health and Medical Research Council of Australia.