Head stereotypies in STXBP1 encephalopathy

Dev Med Child Neurol. 2013 Aug;55(8):769-72. doi: 10.1111/dmcn.12197. Epub 2013 Jun 13.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Electroencephalography
  • Female
  • Head / physiopathology*
  • Humans
  • Male
  • Munc18 Proteins / genetics*
  • Stereotypic Movement Disorder / diagnosis
  • Stereotypic Movement Disorder / genetics*
  • Stereotypic Movement Disorder / physiopathology


  • Munc18 Proteins
  • STXBP1 protein, human