Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy

Francesco Nicita, Giacomo Garone, Laura Papetti, Federica Consoli, Monia Magliozzi, Alessandro De Luca, Alberto Spalice

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)178-182
Number of pages5
JournalJournal of Neurogenetics
Issue number4
Publication statusPublished - Oct 2 2015


  • 15q11.2
  • EEG
  • encephalopathy
  • epilepsy
  • hypothalamus
  • myoclonus
  • UBE3A

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience
  • Genetics


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