Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder

Mov Disord. 2023 Jan;38(1):155-157. doi: 10.1002/mds.29250. Epub 2022 Oct 23.

Dora Steel^{1

2}, Aikaterini Vezyroglou^{1

2}, Katy Barwick¹, Martin Smith³, Julie Vogt⁴, Frances M Gibbon⁵, J Helen Cross^{1

2}, Manju A Kurian^{1

2}

¹ Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
² Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
³ Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, London, United Kingdom.
⁴ West Midlands Regional Genetics Service, Birmingham Women and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom.
⁵ Noah's Ark Children's Hospital for Wales, Cardiff and Vale University Health Board, Cardiff, Wales, United Kingdom.

No abstract available

Keywords: JPH3; alternating hemiplegia of childhood; dyskinesia; dystonia; paroxysmal movement disorder.

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