STXBP1 Stop-Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy

Mov Disord Clin Pract. 2022 Jul 23;9(6):837-840. doi: 10.1002/mdc3.13509. eCollection 2022 Aug.

Robert Spaull^{1

2}, Dora Steel^{1

2}, Katy Barwick¹, Prab Prabhakar², Emma Wakeling³, Manju A Kurian^{1

2}

¹ Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children UCL Great Ormond Street Institute of Child Health London UK.
² Department of Neurology Great Ormond Street Hospital London UK.
³ North East Thames Regional Genetic Service Great Ormond Street Hospital for Children NHS Foundation Trust London UK.

No abstract available

Keywords: STXBP1; movement disorder; stop‐loss; tremor.