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