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.
journal_name
J Neurogenetjournal_title
Journal of neurogeneticsauthors
Nicita F,Garone G,Papetti L,Consoli F,Magliozzi M,De Luca A,Spalice Adoi
10.3109/01677063.2015.1091452subject
Has Abstractpub_date
2015-01-01 00:00:00pages
178-82issue
4eissn
0167-7063issn
1563-5260journal_volume
29pub_type
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