A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2§

Authors

  • Claudia Perandones,

    1. National Administration of Laboratories and Health Institutes of Argentina, Dr. Carlos G. Malbrán, Buenos Aires, Argentina
    2. Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Buenos Aires, Argentina
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  • Federico E. Micheli,

    1. Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Buenos Aires, Argentina
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  • Luis A. Pellene,

    1. Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Buenos Aires, Argentina
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  • Marta A. Bayly,

    1. Epilepsy Research Program, School of Pharmacy and Medical Sciences P4-47, University of South Australia, Adelaide, South Australia, Australia
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  • Samuel F. Berkovic,

    1. Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Melbourne, Victoria, Australia
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  • Leanne M. Dibbens

    Corresponding author
    1. Epilepsy Research Program, School of Pharmacy and Medical Sciences P4-47, University of South Australia, Adelaide, South Australia, Australia
    • Epilepsy Research Program, School of Pharmacy and Medical Sciences P4-47, University of South Australia, Adelaide, South Australia, Australia
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  • Funding agencies: This work was supported by the National and Medical Research Council of Australia (program grant 628952, to S.F.B. and L.M.D.; career development fellowship 1032603, to L.M.D.) and The Women's and Children's Hospital Foundation (to M.B.).

  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • §

    Full financial disclosures and author roles may be found in the online version of this article.

  • All authors contributed to the preparation, writing and editing of the manuscript.

No abstract is available for this article.

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