Assessing Precision Antisense Oligonucleotide Therapy Eligibility for Infantile Genetic Epilepsies
Year: 2025
Type: article
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Emma Sherrill
raw_affiliation_strings: Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Boston, MA, USA
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA
raw_author_name: David Cheerie
raw_affiliation_strings: Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada
raw_author_name: Cara J. Beck
raw_affiliation_strings: Murdoch Children’s Research Institute, Parkville, VIC, Australia
Murdoch Children's Research Institute, Parkville, VIC, Australia
raw_author_name: Ella F. Whittle
raw_affiliation_strings: Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
UK Platform for Nucleic Acid Therapies (UPNAT), London, UK
raw_author_name: Yasin Shafi
raw_affiliation_strings: Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
UK Platform for Nucleic Acid Therapies (UPNAT), London, UK
raw_author_name: Natalie J. Chandler
raw_affiliation_strings: North Thames Genomic Laboratory Hub, Great Ormond Street Hospital NHS Foundation Trust, London, UK
raw_author_name: John Christodoulou
raw_affiliation_strings: Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
Murdoch Children’s Research Institute, Parkville, VIC, Australia
Murdoch Children's Research Institute, Parkville, VIC, Australia
raw_author_name: Jerusalem Daniel
raw_affiliation_strings: Department of Genetics, Evolution and Environment (GEE), University College London, London, UK
UCL Great Ormond Street Institute of Child Health (ICH), London, UK
raw_author_name: Jane Hassell
raw_affiliation_strings: Department of Neurology, Great Ormond Street Hospital, London, UK
raw_author_name: Maria Lachgar-Ruiz
raw_affiliation_strings: North Thames Genomic Laboratory Hub, Great Ormond Street Hospital NHS Foundation Trust, London, UK
raw_author_name: Sarah Mulhern
raw_affiliation_strings: Murdoch Children’s Research Institute, Parkville, VIC, Australia
Victorian Clinical Genetics Services, Melbourne, VIC, Australia
Murdoch Children's Research Institute, Parkville, VIC, Australia
raw_author_name: Elizabeth Scotchman
raw_affiliation_strings: North Thames Genomic Laboratory Hub, Great Ormond Street Hospital NHS Foundation Trust, London, UK
raw_author_name: Jashanpreet Sidhu
raw_affiliation_strings: Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada
raw_author_name: Celine Florentia Tedja
raw_affiliation_strings: Division of Biosciences, University College London, London, UK
raw_author_name: Gene-STEPS Study Group
raw_affiliation_strings: Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
North Thames Genomic Laboratory Hub, Great Ormond Street Hospital NHS Foundation Trust, London, UK
raw_author_name: Lyn S. Chitty
raw_affiliation_strings: Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
North Thames Genomic Laboratory Hub, Great Ormond Street Hospital NHS Foundation Trust, London, UK
Department of Neurology, Great Ormond Street Hospital, London, UK
Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK
raw_author_name: J. Helen Cross
raw_affiliation_strings: Department of Neurology, Great Ormond Street Hospital, London, UK
Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
Murdoch Children's Research Institute, Parkville, VIC, Australia
Austin Health, and Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia
raw_author_name: Ingrid E. Scheffer
raw_affiliation_strings: Austin Health, and Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia
Department of Medicine, University of Melbourne, Melbourne, VIC, Australia
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
Murdoch Children’s Research Institute, Parkville, VIC, Australia
UK Platform for Nucleic Acid Therapies (UPNAT), London, UK
Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
raw_author_name: Haiyan Zhou
raw_affiliation_strings: Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
UK Platform for Nucleic Acid Therapies (UPNAT), London, UK
F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA
Department of Pediatrics, Harvard Medical School, Boston, MA, USA
raw_author_name: Timothy W. Yu
raw_affiliation_strings: Department of Pediatrics, Harvard Medical School, Boston, MA, USA
Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Boston, MA, USA
F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Boston, MA, USA
Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada
Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
Neuroscience and Mental Health Program, SickKids Research Institute, Toronto, Ontario, Canada
raw_author_name: Vann Chau
raw_affiliation_strings: Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada
Neuroscience and Mental Health Program, SickKids Research Institute, Toronto, Ontario, Canada
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
Murdoch Children's Research Institute, Parkville, VIC, Australia
raw_author_name: Sarah E. M. Stephenson
raw_affiliation_strings: Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
Murdoch Children’s Research Institute, Parkville, VIC, Australia
Department of Neurology, Harvard Medical School, Boston, MA, USA
F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA
raw_author_name: Annapurna Poduri
raw_affiliation_strings: Children’s Rare Disease Collaborative, Boston Children’s Hospital, Boston, MA, USA
Department of Neurology, Boston Children’s Hospital, Boston, MA, USA
Department of Neurology, Harvard Medical School, Boston, MA, USA
F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Boston, MA, USA
Murdoch Children's Research Institute, Parkville, VIC, Australia
Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
raw_author_name: Katherine B. Howell
raw_affiliation_strings: Department of Neurology, Royal Children’s Hospital, Melbourne, VIC, Australia
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
Murdoch Children’s Research Institute, Parkville, VIC, Australia
Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK
raw_author_name: Amy McTague
raw_affiliation_strings: Department of Neurology, Great Ormond Street Hospital, London, UK
Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK
Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada
Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
raw_author_name: Gregory Costain
raw_affiliation_strings: Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada
F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA
Department of Pediatrics, Harvard Medical School, Boston, MA, USA
raw_author_name: Alissa M. D’Gama
raw_affiliation_strings: Children’s Rare Disease Collaborative, Boston Children’s Hospital, Boston, MA, USA
Department of Pediatrics, Harvard Medical School, Boston, MA, USA
Division of Newborn Medicine, Department of Pediatrics, Boston Children’s Hospital, Boston, MA, USA
F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Boston, MA, USA