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Epilepsia. 2011 Nov;52(11):e172-5. doi: 10.1111/j.1528-1167.2011.03193.x. Epub 2011 Jul 21.

Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.

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1
Division of Neurology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy. nicola.specchio@opbg.net

Abstract

To report differences and similarities between febrile infection-related epilepsy syndrome (FIRES) and epilepsy in female patients with protocadherin 19 (PCDH19) mutation. These are two recently described epileptic conditions characterized by drug-resistant epilepsy and cognitive impairment. We report, as exemplification, one of our patients with acute-onset epilepsy triggered by fever with clinical course resembling FIRES, but with a missense mutation of PCDH19 gene. The clinical characteristics of this patient are similar to those reported for FIRES. We believe that female patients with febrile acute-onset epilepsy resembling FIRES are potential PCDH19 mutation carriers.

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