Head stereotypies in STXBP1 encephalopathy

Authors

  • Young Ok Kim,

    1. Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Melbourne, Vic., Australia
    2. Department of Paediatrics, School of Medicine, Chonnam National University, Gwangju, Republic of Korea
    Search for more papers by this author
  • Christian M Korff,

    1. Paediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland
    Search for more papers by this author
  • Mel Michel G Villaluz,

    1. Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Melbourne, Vic., Australia
    Search for more papers by this author
  • Arvid Suls,

    1. Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
    2. Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
    Search for more papers by this author
  • Sarah Weckhuysen,

    1. Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
    2. Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
    Search for more papers by this author
  • Peter De Jonghe,

    1. Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
    2. Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
    3. Division of Neurology, Antwerp University Hospital, Antwerp, Belgium
    Search for more papers by this author
  • Ingrid E Scheffer

    Corresponding author
    1. Florey Institute, Melbourne, Vic., Australia
    2. Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Melbourne, Vic., Australia
    • Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Melbourne, Vic., Australia
    Search for more papers by this author

Correspondence to Ingrid E Scheffer, Epilepsy Research Centre, Melbourne Brain Centre, 245 Burgundy Street, Heidelberg, Victoria 3084, Australia. E-mail: scheffer@unimelb.edu.au

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.

Ancillary