期刊
EPILEPSY RESEARCH
卷 100, 期 1-2, 页码 194-198出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.eplepsyres.2012.02.007
关键词
FIRES; SCN1A; Status epilepticus; Dravet; Fever
资金
- Fondo de Investigaciones Sanitarias, Instituto Carlos III, Spain
- National Health and Medical Research Council of Australia
Two distinctive epileptic encephalopathies, febrile infection-related epilepsy syndrome (FIRES) and Dravet syndrome (DS), present with febrile status epitepticus 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. (C) 2012 Published by Elsevier B.V.
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