Document Detail

Head stereotypies in STXBP1 encephalopathy.
MedLine Citation:
PMID:  23763664     Owner:  NLM     Status:  Publisher    
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.
Young Ok Kim; Christian M Korff; Mel Michel G Villaluz; Arvid Suls; Sarah Weckhuysen; Peter De Jonghe; Ingrid E Scheffer
Related Documents :
12150324 - Comparison of sleep disturbance in mild versus severe parkinson's disease.
23916734 - Sleep allostasis in chronic sleep restriction: the role of the norepinephrine system.
24814054 - Long-term changes in straylight induced by corneal refractive therapy: a pilot study.
15521844 - Sleep dysfunction in patients with gastro-oesophageal reflux disease: prevalence and re...
19922744 - Lateral bias of agonistic responses to mirror images and morphological asymmetry in the...
22055074 - Assessment of a single-piece hydrophilic acrylic iol for piggyback sulcus fixation in p...
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.
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Low Back Pain in a Natural Disaster.
Next Document:  Release and in vitro skin permeation of polyphenols from cosmetic emulsions.