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

  • Robert Spaull
  • , Dora Steel
  • , Katy Barwick
  • , Prab Prabhakar
  • , Emma Wakeling
  • , Manju A. Kurian*
  • *Corresponding author for this work

Research output: Contribution to journal › Article (Academic Journal) › peer-review

9 Citations (Scopus)
131 Downloads (Pure)
Original languageEnglish
Pages (from-to)837-840
Number of pages4
JournalMovement Disorders Clinical Practice
Volume9
Issue number6
Early online date21 Jun 2022
DOIs
Publication statusPublished - 2 Aug 2022

Bibliographical note

Funding Information:
The authors declare they have no conflict of interest relating to this manuscript. This study was funded by an NIHR Professorship (MAK, DS, RS), The Sir Jules Thorn Biomedical Award for Research (MAK, KB) and Rosetrees Trust (MAK, KB). The views expressed are those of the authors and not necessarily those of the NIHR.

Funding Information:
RS's salary is supported by grants from the NIHR, Great Ormond Hospital Children's Charity, and LifeArc; DS's salary is supported by grant from the NIHR; KB's salary is supported by grant from the NIHR, with research supported by grants from NIHR, Sir Jules Thorne and Rosetrees trust; MAK's salary is supported by grant from the NIHR, with research supported by grants from NIHR, Sir Jules Thorne, Rosetrees trust, Great Ormond Hospital Children's Charity, and LifeArc; PP and EW have nothing to disclose.

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