title: Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.
abstract: Myoclonic status in nonprogressive encephalopathy (MSNE) is an early-onset, drug-resistant epileptic syndrome characterized by occurrence of continuous diffuse epileptiform abnormalities, associated with positive and/or negative phenomena and accompanied by transient and recurring motor, cognitive, and behavioral impairment. MSNE has been reported in Angelman syndrome (AS) secondary to 15q11-13 deletions or UBE3A mutations but not to paternal uniparental disomy (UPD). We describe the case of a male patient with AS caused by UPD who developed a myoclonic status (MS) associated with long-lasting fever of central origin, both promptly regressed with introduction of levetiracetam. Only three descriptions of thermal dysregulation in AS exist, and none of the previously reported cases were associated with MS or with UPD. Association of MS and central fever expands the spectrum of epileptic and non-epileptic features in UPD-related AS and provides a further evidence of hypothalamus involvement in the pathogenesis of this neurodevelopmental disorder.
authors.affiliation: a Department of Pediatrics and Child Neuropsychiatry, Division of Child Neurology , Policlinico Hospital, Sapienza University , Roma , Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.affiliation: a Department of Pediatrics and Child Neuropsychiatry, Division of Child Neurology , Policlinico Hospital, Sapienza University , Roma , Italy.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Garone
authors.affiliation: a Department of Pediatrics and Child Neuropsychiatry, Division of Child Neurology , Policlinico Hospital, Sapienza University , Roma , Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Papetti
authors.affiliation: b IRCCS - Casa Sollievo della Sofferenza Hospital, Mendel Institute , Roma , Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Consoli
authors.affiliation: b IRCCS - Casa Sollievo della Sofferenza Hospital, Mendel Institute , Roma , Italy.
authors.forename: Monia
authors.initials: M
authors.lastname: Magliozzi
authors.affiliation: b IRCCS - Casa Sollievo della Sofferenza Hospital, Mendel Institute , Roma , Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: De Luca
authors.affiliation: a Department of Pediatrics and Child Neuropsychiatry, Division of Child Neurology , Policlinico Hospital, Sapienza University , Roma , Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
mesh_terms: D017204:Angelman Syndrome / Q000150:complications* / Q000235:genetics; D002675:Child, Preschool; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000209:etiology*; D004827:Epilepsy; D005334:Fever / Q000209:etiology*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D017384:Sequence Deletion / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases
keywords: 15q11.2; EEG; UBE3A; encephalopathy; epilepsy; hypothalamus; myoclonus