title: Status epilepticus in fragile X syndrome.
abstract: Epilepsy is frequent in fragile X syndrome (FXS), the most common cause of inherited mental retardation. Status epilepticus (SE), however, seems exceptional in FXS, particularly as an initial epileptic manifestation. To our knowledge, SE was reported in only four FXS patients. We report the clinical features and electroencephalography (EEG) findings of five children with FXS, who presented with SE as their initial seizure.
authors.affiliation: Pediatric Emergencies Service, Child and Adolescent Department, University Hospital, Geneva, Switzerland.
authors.forename: Magali
authors.initials: M
authors.lastname: Gauthey
authors.forename: Claudia B
authors.initials: CB
authors.lastname: Poloni
authors.forename: Gian-Paolo
authors.initials: GP
authors.lastname: Ramelli
authors.forename: Eliane
authors.initials: E
authors.lastname: Roulet-Perez
authors.forename: Christian M
authors.initials: CM
authors.lastname: Korff
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D002675:Child, Preschool; D004569:Electroencephalography / Q000706:statistics & numerical data*; D019305:Epilepsy, Rolandic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D013226:Status Epilepticus / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D013577:Syndrome
chemical_list: D000927:Anticonvulsants