Mutations in antiquitin in individuals with pyridoxine-dependent seizures (original) (raw)

Change history

  1. References in text and at the end of the document were incorrect, and changes had to be made. 2) In the main text, a symbol (representing a mutation) was written incorrectly. 3) The files for Supplementary Methods, Supplementary Table 1 and Supplementary Figure 2 converted incorrectly to PDF format from Word, and must be replaced.

Notes

  1. Note: In the version of this article initially published online, some references were cited incorrectly, and the reference list was numbered incorrectly. One mutation was also written incorrectly (“Y308X” should have been “Y380X”), and symbols were missing from the supplementary information. The errors have been corrected for all versions of the article.

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Acknowledgements

This work was funded in part by the Horst Bickel Prize (sponsored by SHS Gesellschaft für klinische Ernähhrung mbH, Heilbronn, Germany). Research at the University College London Institute of Child Health and Great Ormond Street Hospital for Children National Health Service (NHS) Trust benefits from research and development funding received from the NHS Executive. We are grateful to K. Pearce and L. Bland for their skillful operation of the MegaBACE sequencer within the London IDEAS Genetics Knowledge Park, to K. Tuschl and C. Beesley for their technical assistance and to H. ten Brink for his assistance in the preparation of the P6C–α-aminoadipic semialdehyde.

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Authors and Affiliations

  1. Institute of Child Health, University College London with Great Ormond Street Hospital for Children National Health Service Trust, 30 Guilford Street, London, UK
    Philippa B Mills & Peter T Clayton
  2. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, Amsterdam, 1081 HV, The Netherlands
    Eduard Struys & Cornelis Jakobs
  3. Department of Pediatrics, University Hospital Graz, Auenbruggerplatz 30, Graz, A-8036, Austria
    Barbara Plecko
  4. Sheffield Children's Hospital, Western Bank, Sheffield, SI0 2TH, UK
    Peter Baxter
  5. Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Steinwiesstr. 75, Zürich, CH-8032, Switzerland
    Matthias Baumgartner
  6. Department of Pediatric Neurology, University Medical Center, Nijmegen, 9101, Nijmegen, 6500 HB, The Netherlands
    Michèl A A P Willemsen
  7. Department of Neuropediatrics, Albert-Ludwigs University of Freiburg, Freiburg im Breisgau, 79106, Germany
    Heymut Omran & Uta Tacke
  8. Department of Neuropediatrics, Charité Medical School, Augustenburger Platzl, Berlin, D-13353, Germany
    Birgit Uhlenberg & Bernhard Weschke

Authors

  1. Philippa B Mills
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  2. Eduard Struys
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  3. Cornelis Jakobs
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  4. Barbara Plecko
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  5. Peter Baxter
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  6. Matthias Baumgartner
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  7. Michèl A A P Willemsen
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  8. Heymut Omran
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  9. Uta Tacke
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  10. Birgit Uhlenberg
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  11. Bernhard Weschke
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  12. Peter T Clayton
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Corresponding author

Correspondence toPeter T Clayton.

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Mills, P., Struys, E., Jakobs, C. et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures.Nat Med 12, 307–309 (2006). https://doi.org/10.1038/nm1366

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