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Epilepsy Res ; 100(1-2): 194-8, 2012 Jun.
Article in English | MEDLINE | ID: mdl-22386634

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.


Subject(s)
Mutation/genetics , NAV1.1 Voltage-Gated Sodium Channel/genetics , Seizures, Febrile/genetics , Adolescent , Adult , Child, Preschool , Diagnosis, Differential , Epilepsies, Myoclonic/genetics , Humans , Seizures, Febrile/diagnosis , Young Adult
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