EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

Author:

Kuipers Demy J. S.1ORCID,Mandemakers Wim1,Lu Chin‐Song23,Olgiati Simone1,Breedveld Guido J.1,Fevga Christina1,Tadic Vera4,Carecchio Miryam56,Osterman Bradley7,Sagi‐Dain Lena8,Wu‐Chou Yah‐Huei9,Chen Chiung C.310,Chang Hsiu‐Chen23,Wu Shey‐Lin11,Yeh Tu‐Hsueh1213ORCID,Weng Yi‐Hsin310,Elia Antonio E.14,Panteghini Celeste5,Marotta Nicolas15ORCID,Pauly Martje G.4,Kühn Andrea A.16,Volkmann Jens17,Lace Baiba18,Meijer Inge A.19,Kandaswamy Krishna20,Quadri Marialuisa121,Garavaglia Barbara5,Lohmann Katja4ORCID,Bauer Peter20,Mencacci Niccolò E.15,Lubbe Steven J.15,Klein Christine4ORCID,Bertoli‐Avella Aida M.20,Bonifati Vincenzo1

Affiliation:

1. Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam Rotterdam the Netherlands

2. Professor Lu Neurological Clinic Taoyuan Taiwan

3. Section of Movement Disorders, Department of Neurology and Neuroscience Research Center Chang Gung Memorial Hospital Taoyuan Taiwan

4. Institute of Neurogenetics, University of Lübeck Lübeck Germany

5. Medical Genetics and Neurogenetics Unit Fondazione IRCCS Istituto Neurologico C. Besta Milan Italy

6. Department of Neuroscience University of Padua Padua Italy

7. Division of Child Neurology, Department of Pediatrics Montreal Children's Hospital, McGill University Health Centre Montreal Quebec Canada

8. Genetics Institute, Carmel Medical Center, Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology Haifa Israel

9. Department of Medical Research Chang Gung Memorial Hospital Taoyuan Taiwan

10. Department of Medicine Chang Gung University Taoyuan Taiwan

11. Department Neurology Changhua Christian Hospital Chunghua Taiwan

12. Department of Neurology Taipei Medical University Hospital Taipei Taiwan

13. School of Medicine Taipei Medical University Taipei Taiwan

14. Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

15. Ken and Ruth Davee Department of Neurology and Simpson Querry Center for Neurogenetics, Northwestern University Feinberg School of Medicine Chicago IL USA

16. Department of Neurology Charité–Universitätsmedizin Berlin, Corporate Member of Freie Universität of Berlin and Humboldt, Universität zu Berlin, and Berlin Institute of Health Berlin Germany

17. Department of Neurology University Hospital Würzburg Würzburg Germany

18. Centre Hospitalier Universitaire de Québec Quebec City Quebec Canada

19. Department of Neurosciences and Pediatrics, Centre Hospitalier Universitaire Sainte‐Justine University of Montreal Montreal Quebec Canada

20. Centogene AG Rostock Germany

21. Janssen Vaccines and Prevention Leiden the Netherlands

Funder

Damp Stiftung

Stichting ParkinsonFonds

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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