Author information:
(1)Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 
4XW, UK; Division of Cancer and Genetics, School of Medicine, Cardiff 
University, Cardiff CF14 4XN, UK. Electronic address: fryae@cardiff.ac.uk.
(2)Department of Biological Sciences, Hunter College of City University, 695 
Park Avenue, New York, NY 10065, USA; Program in Biology, Graduate Center of 
City University, 365 Fifth Avenue, New York, NY 10016, USA.
(3)Neurology and Molecular Neuroscience Research, Institute of Life Science, 
Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK.
(4)Neurology and Molecular Neuroscience Research, Institute of Life Science, 
Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; 
Neurology department, Morriston Hospital, Swansea Bay University Hospital Health 
Board, Swansea SA6 6NL, UK.
(5)Paediatric Neurology, University Hospital of Wales, Heath Park, Cardiff CF14 
4XW, UK.
(6)Division of Cancer and Genetics, School of Medicine, Cardiff University, 
Cardiff CF14 4XN, UK.
(7)Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 
4XW, UK.
(8)Manchester Centre for Genomic Medicine, Manchester University NHS Foundation 
Trust and Institute of Human Development, University of Manchester, Manchester 
M13 9WL, UK.
(9)Department of Paediatric Neurology, Royal Manchester Children's Hospital, 
Oxford Road, Manchester M13 9WL, UK.
(10)Department of Neurology, Salford Royal Hospital NHS Foundation Trust, Stott 
Lane, Salford M6 8HD, UK.
(11)Department of Radiology, Alder Hey Children's NHS Foundation Trust, Eaton 
Road, Liverpool L12 2AP, UK.
(12)West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham 
Women's Hospital, Birmingham B15 2TG, UK.
(13)Department of Paediatrics, McMaster University, 1200 Main St. W., Hamilton, 
ON L8N 3Z5, Canada.
(14)Department of Pediatrics, Peking University First Hospital, Xicheng 
District, Beijing 100034, China.
(15)Cipher Gene Ltd, Beijing, China.
(16)Genomics England, London EC1M 6BQ, UK.
(17)Neurology and Molecular Neuroscience Research, Institute of Life Science, 
Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; 
Faculty of Medicine and Health, Camperdown, University of Sydney, NSW 2006, 
Australia.
(18)Neurology and Molecular Neuroscience Research, Institute of Life Science, 
Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Kids 
Neuroscience Centre, Kids Research, Children Hospital at Westmead, Sydney, NSW 
2145, Australia; Brain and Mind Centre, Faculty of Medicine and Health, 
University of Sydney, NSW 2050, Australia.