Article
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
Epilepsy research - 1 Jun 2012
Carranza Rojo Daniel, Harvey A Simon, Iona Xenia, Dibbens Leanne M, Damiano John A, Arsov Todor, Gill Deepak, Freeman Jeremy L, Leventer Richard J, Vincent Angela, Berkovic Samuel F, McMahon Jacinta M, Scheffer Ingrid E
Abstract excerpt
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...
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