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Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype

  • Tatiana Svorenova
    Correspondence
    Corresponding author. Dept. of Neurology, P. J. Safarik University Trieda SNP 1, 04011, Kosice, Slovak Republic.
    Affiliations
    Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic
    Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic
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  • Luigi M. Romito
    Affiliations
    Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Parkinson and Movement Disorders Unit, Milan, Italy
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  • Isabel Colangelo
    Affiliations
    Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy
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  • Vladimir Han
    Affiliations
    Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic
    Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic
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  • Robert Jech
    Affiliations
    Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic
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  • Holger Prokisch
    Affiliations
    Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany
    Technical University of Munich, Munich, Germany
    School of Medicine, Institute of Human Genetics, Germany
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  • Juliane Winkelmann
    Affiliations
    Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany
    Technical University of Munich, Munich, Germany
    School of Medicine, Institute of Human Genetics, Germany
    Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany
    Munich Cluster for Systems Neurology, SyNergy, Munich, Germany
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  • Author Footnotes
    1 contributed equally as last authors.
    Matej Skorvanek
    Footnotes
    1 contributed equally as last authors.
    Affiliations
    Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic
    Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic
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  • Barbara Garavaglia
    Affiliations
    Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy
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  • Michael Zech
    Affiliations
    Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany
    Technical University of Munich, Munich, Germany
    School of Medicine, Institute of Human Genetics, Germany
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  • Author Footnotes
    1 contributed equally as last authors.

      Highlights

      • Two subjects with novel TCF20 variants in whom dystonia was a leading phenotype.
      • Expand the spectrum of TCF20 neurodevelopmental disease to a dystonia-prominent.
      • To increase awareness of movement disorders contributing to developmental disorders.
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