Document Detail


Head stereotypies in STXBP1 encephalopathy.
MedLine Citation:
PMID:  23763664     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
STXBP1 encephalopathy is associated with a range of movement disorders. We observed head stereotypies in three patients. These comprised a slow (<1Hz), high-amplitude, horizontal, 'figure-of-eight' pattern, beginning at age 4-6 years and resulting in neck muscle hypertrophy, in two males; a faster (2-3Hz), side-to-side, 'no' movement, starting at the age of 9 years 6 months was observed in one female. Upper limb and truncal stereotypies and vocalization occurred intermittently with the head movements. The stereotypies increased with excitement but settled with concentration and sleep. Head and upper limb stereotypies are valuable clinical clues to the diagnosis of STXBP1 encephalopathy in patients with profound impairments.
Authors:
Young Ok Kim; Christian M Korff; Mel Michel G Villaluz; Arvid Suls; Sarah Weckhuysen; Peter De Jonghe; Ingrid E Scheffer
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-6-13
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  -     ISSN:  1469-8749     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-6-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 Mac Keith Press.
Affiliation:
Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Melbourne, Vic., Australia; Department of Paediatrics, School of Medicine, Chonnam National University, Gwangju, Republic of Korea.
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