Author information:
(1)1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. 
[2] Cambridge Institute for Medical Research, University of Cambridge, 
Cambridge, UK.
(2)Department of Orthopaedics, Medical University Vienna, Vienna, Austria.
(3)Department of Life Sciences, Graduate School of Arts and Sciences, University 
of Tokyo, Tokyo, Japan.
(4)Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, 
Germany.
(5)1] Nuffield Department of Clinical Neurosciences, University of Oxford, 
Oxford, UK. [2] Brain Function Research Group, School of Physiology, Faculty of 
Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
(6)1] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, 
Germany. [2] Institute of Human Genetics, Technische Universität München, 
Munich, Germany.
(7)Department of Medical Genetics, University of Lausanne, Lausanne, 
Switzerland.
(8)Disease Mechanism Research Core, RIKEN Brain Science Institute, Saitama, 
Japan.
(9)Neusentis Research Unit, Pfizer, Cambridge, UK.
(10)1] Nuffield Department of Clinical Neurosciences, University of Oxford, 
Oxford, UK. [2] School of Health and Rehabilitation Sciences, The University of 
Queensland, St. Lucia, Australia.
(11)Department of Neurology, Istanbul University, Istanbul, Turkey.
(12)Ambulantes Gesundheitszentrum der Charité Campus Virchow (Humangenetik), 
Universitätsmedizin Berlin, Berlin, Germany.
(13)1] Praxis für Humangenetik Cottbus, Cottbus, Germany. [2] Institut für 
Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany.
(14)1] Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, 
Germany. [2] Institut für Humangenetik, Universitätsklinikum Essen, Essen, 
Germany.
(15)Department of Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.
(16)Department of Clinical Genetics, Odense University Hospital, Odense, 
Denmark.
(17)Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
(18)Neuropädiatrische Ambulanz, Krankenhaus der Barmherzigen Schwestern Linz, 
Linz, Austria.
(19)Neurogenetics Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, 
Italy.
(20)Departamento de Cirugía Plástica, Hospital Infantil Universitario de San 
José, Bogotá, Colombia.
(21)Unidad de Genética, Universidad del Rosario, Bogotá, Colombia.
(22)Institut für Neuropathologie, Uniklinik RWTH Aachen, Aachen, Germany.
(23)1] Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, 
Germany. [2] German Center for Neurodegenerative Diseases (DZNE), Munich, 
Germany.
(24)Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
(25)Department of Clinical Biochemistry, University of Cambridge, Cambridge, UK.
(26)SPZ Neuropädiatrie Charité, Universitätsmedizin Berlin, Berlin, Germany.
(27)CharitéCentrum für Zahn-, Mund- und Kieferheilkunde, Arbeitsbereich 
Kinderzahnmedizin, Universitätsmedizin Berlin, Berlin, Germany.
(28)GENDIA (GENetic DIAgnostic Network), Antwerp, Belgium.
(29)Cambridge Institute for Medical Research, University of Cambridge, 
Cambridge, UK.
(30)Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
(31)1] Department of Neurology, University of California San Francisco, San 
Francisco, California, USA. [2] Department of Neuroscience, Bambino Gesù 
Children's Hospital and Research Institute, Rome, Italy.
(32)Department of Neurology and Neurophysiology, Our Lady's Children's Hospital, 
Dublin, Ireland.
(33)1] Department of Neurology, Adelaide &Meath Hospital, Dublin, Ireland. [2] 
Academic Unit of Neurology, Trinity College, Dublin, Ireland.
(34)1] Department of Dermatology, Our Lady's Children's Hospital, Dublin, 
Ireland. [2] Clinical Medicine, Trinity College, Dublin, Ireland.
(35)Department of Clinical Genetics, Aarhus University Hospital, Aarhus, 
Denmark.
(36)1] Center for Human Genetics, Bioscientia, Ingelheim, Germany. [2] 
Department of Medicine, Renal Division, Freiburg University Medical Center, 
Freiburg, Germany. [3] Center for Clinical Research, Freiburg University Medical 
Center, Freiburg, Germany.
(37)1] Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, 
Germany. [2] Medizinisch Genetisches Zentrum, Munich, Germany.
(38)1] Neurogenetics Group, VIB Department of Molecular Genetics, University of 
Antwerp, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute 
Born-Bunge, University of Antwerp, Antwerp, Belgium. [3] Department of 
Neurology, Antwerp University Hospital, Antwerp, Belgium.
(39)MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National 
Hospital for Neurology, London, UK.
(40)Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.
(41)Institute of Human Genetics, Jena University Hospital, Jena, Germany.
(42)1] Institute of Human Genetics, Technische Universität München, Munich, 
Germany. [2] Department of Neuroscience, Karolinska Institutet, Stockholm, 
Sweden. [3] Department of Clinical Neuroscience, Karolinska Institutet, 
Stockholm, Sweden.
(43)Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, 
UK.