| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3052315 | Epilepsy Research | 2012 | 5 Pages |
Abstract
SummaryTwo 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.
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Authors
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,