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

Authors :
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
Source :
Epilepsy research [Epilepsy Res] 2012 Jun; Vol. 100 (1-2), pp. 194-8. Date of Electronic Publication: 2012 Mar 03.
Publication Year :
2012

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.<br /> (Copyright © 2012. Published by Elsevier B.V.)

Details

Language :
English
ISSN :
1872-6844
Volume :
100
Issue :
1-2
Database :
MEDLINE
Journal :
Epilepsy research
Publication Type :
Academic Journal
Accession number :
22386634
Full Text :
https://doi.org/10.1016/j.eplepsyres.2012.02.007