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Title: Head stereotypies in STXBP1 encephalopathy.
Austin Authors: Kim, Young Ok;Korff, Christian M;Villaluz, Mel Michel G;Suls, Arvid;Weckhuysen, Sarah;De Jonghe, Peter;Scheffer, Ingrid E 
Affiliation: Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
Issue Date: 13-Jun-2013
Publication information: Developmental Medicine and Child Neurology 2013; 55(8): 769-72
Abstract: 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.
Gov't Doc #: 23763664
DOI: 10.1111/dmcn.12197
Type: Journal Article
Subjects: Adolescent
Munc18 Proteins.genetics
Stereotypic Movement Disorder.diagnosis.genetics.physiopathology
Appears in Collections:Journal articles

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