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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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.

Original languageEnglish
JournalEpilepsia
Volume52
Issue number11
DOIs
Publication statusPublished - Nov 2011

Keywords

  • Acute onset epilepsy
  • Encephalopathy
  • Febrile onset
  • FIRES
  • PCDH19

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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