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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