P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study

• Nicole Si Yan Liang,
• Gregory Costain,
• Alissa D'Gama,
• Amy McTague,
• Katherine Howell,
• Vann Chau,
• Sarah Mulhern,
• Annapurna Poduri,
• Ingrid Scheffer,
• Beth Sheidley,
• Meredith Curtis,
• Edward Higginbotham,
• Tayyaba Khan,
• Lyndsey McRae,
• Kimberly Wiltrout,
• Robin Hayeems,
• Puneet Jain,
• Sebastian Lunke,
• Christian Marshall,
• Lyn Chitty,
• Shira Rockowitz,
• Zornitza Stark,
• Susan White

Affiliations

Nicole Si Yan Liang

The Hospital for Sick Children

Gregory Costain

Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada, Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada, Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada, Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada

Alissa D'Gama

Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, Department of Pediatrics, Harvard Medical School, Boston, MA

Amy McTague

Department of Neurology, Great Ormond Street Hospital, London, UK, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK

Katherine Howell

Murdoch Children's Research Institute, Melbourne, VIC, Australia, Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia; Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada

Vann Chau

Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada

Sarah Mulhern

Victorian Clinical Genetics Service, Melbourne, VIC, Australia; Murdoch Children's Research Institute

Annapurna Poduri

Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, Department of Neurology, Harvard Medical School, Boston, MA

Ingrid Scheffer

Murdoch Children's Research Institute, Melbourne, VIC, Australia

Beth Sheidley

Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston

Meredith Curtis

Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada

Edward Higginbotham

Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada

Tayyaba Khan

Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada

Lyndsey McRae

Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada

Kimberly Wiltrout

Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, Department of Neurology, Harvard Medical School, Boston, MA

Robin Hayeems

Program in Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada, Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON, Canada

Puneet Jain

Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada

Sebastian Lunke

Victorian Clinical Genetics Service, Melbourne, VIC, Australia, Murdoch Children's Research Institute, Melbourne, VIC, Australia, Department of Pathology, University of Melbourne, Melbourne, VIC, Australia

Christian Marshall

Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada

Lyn Chitty

North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK

Shira Rockowitz

The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, Research Computing, Boston Children's Hospital, Boston, MA, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA

Zornitza Stark

Victorian Clinical Genetics Service, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia

Susan White

Victorian Clinical Genetics Service, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia