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The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

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An Erratum to this article was published on 12 April 2015

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Acknowledgments

We thank all the patients who contributed to this project, Jackie Senior for editing the manuscript, and Sylvie Forlani and Fabien Lesne for technical assistance. The study was supported by a Rosalind Franklin Fellowship from the University of Groningen, the Prinses Beatrix Foundation (W.OR10-38), NutsOhra (1101–042), and the European Union 6th PCRD (to the EUROSCA consortium). We thank the clinical members of the SPATAX network, which is devoted to research on cerebellar ataxias (http://spatax.wordpress.com).

Conflict of interest

The authors declare they have no conflicts of interest.

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Authors and Affiliations

  1. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

    Anna Duarri, Esther Nibbeling, Michiel R. Fokkens & Dineke S. Verbeek

  2. Department of Medical Physiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

    Michel Meijer & Erik Boddeke

  3. Reference Center for Rare Neuromuscular Diseases, Pôle de psychiatrie et neurologie, CHU de Grenoble, Grenoble, France

    Emmeline Lagrange

  4. INSERM, U975, 75013, Paris, France

    Giovanni Stevanin, Alexis Brice & Alexandra Durr

  5. Université Pierre et Marie Curie-Paris 6, UMR-S975, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France

    Giovanni Stevanin, Alexis Brice & Alexandra Durr

  6. CNRS, UMR 7225, 75013, Paris, France

    Giovanni Stevanin, Alexis Brice & Alexandra Durr

  7. Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France

    Giovanni Stevanin, Alexis Brice & Alexandra Durr

  8. ICM, Brain and Spine Institute, University Salpêtrière Hospital, Paris, France

    Giovanni Stevanin, Alexis Brice & Alexandra Durr

Authors
  1. Anna Duarri
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  2. Esther Nibbeling
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  3. Michiel R. Fokkens
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  4. Michel Meijer
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  5. Erik Boddeke
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  6. Emmeline Lagrange
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  7. Giovanni Stevanin
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  8. Alexis Brice
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  9. Alexandra Durr
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  10. Dineke S. Verbeek
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Corresponding author

Correspondence to Dineke S. Verbeek.

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Table S1

List of primer sequences used for HRM (PDF 11 kb)

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Duarri, A., Nibbeling, E., Fokkens, M.R. et al. The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together. Neurogenetics 14, 257–258 (2013). https://doi.org/10.1007/s10048-013-0370-0

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  • DOI: https://doi.org/10.1007/s10048-013-0370-0

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