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

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• 作者：Daniel Carranza Rojo^a ; A. Simon Harvey^b ; ^c ; Xenia Iona^c ; Leanne M. Dibbens^c ; John A. Damiano^a ; Todor Arsov^a ; Deepak Gill^d ; Jeremy L. Freeman^b ; Richard J. Leventer^b ; ^e ; Angela Vincent^f ; Samuel F. Berkovic^a ; Jacinta M. McMahon^a ; Ingrid E. Scheffer^a ; ^b ; ^g ; ^{scheffer@unimelb.edu.au}
• 关键词：FIRES ; SCN1A ; Status epilepticus ; Dravet ; Fever
• 刊名：Epilepsy Research
• 出版年：2012
• 期刊代码：87_09201211
• 类别：med
• 出版时间：June, 2012
• 卷：100
• 期：1-2
• 页码：194-198
• 文件大小：173 K

摘要

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Summary

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.