title: Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.
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.
authors.affiliation: Division of Neurology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy. nicola.specchio@opbg.net
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
authors.forename: Lucia
authors.initials: L
authors.lastname: Fusco
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
mesh_terms: D015820:Cadherins / Q000235:genetics*; D002648:Child; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D005260:Female; D005334:Fever / Q000150:complications*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D000091363:Protocadherins; D003294:Seizures, Febrile / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D013577:Syndrome
chemical_list: D015820:Cadherins; C438605:PCDH19 protein, human; D000091363:Protocadherins