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Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

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Title: Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
Authors: Galea B; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia., Reid J; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, 3052, Australia., Gooley S; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia., Witkowski T; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia., Lane T; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Macdonald S; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia., Green TE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Ye Z; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia., Adikari T; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia., Bulluss K; Department of Neurosurgery, Austin Health, Heidelberg, Victoria, 3084 Australia., Mullen SA; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia., Bennett CA; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia., Forster B; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia., Bradshaw G; Molecular Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia., Lin W; Molecular Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia., De Silva W; Molecular Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia., Ramirez RB; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, 02115 United States of America., Khoshkhoo S; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, 02115 United States of America.; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston, Massachusetts, 02115 United States of America.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, 02142 United States of America., Gupta S; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia., Krivanek M; Department of Histopathology, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia., Kothur K; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.; University of Sydney, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.; Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia., Gill D; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.; University of Sydney, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.; Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia., Pope K; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Gillies G; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Coleman M; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Lee WS; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Stephenson SM; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Maixner W; Department of Neurosurgery, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Harvey AS; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Macdonald-Laurs E; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Howell KB; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., D'Arcy C; Department of Anatomical Pathology, The Royal Children's Hospital, Parkville, Victoria 3052, Australia., Lockhart PJ; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Leventer RJ; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Kalnins RM; Anatomical Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia., Clark J; Anatomical Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia., Bennett MF; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, 3052, Australia., Bahlo M; Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, 3052, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.; Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia., Perucca P; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Nov 22. Date of Electronic Publication: 2025 Nov 22.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
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  Data: Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
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  Data: <searchLink fieldCode="AU" term="%22Galea+B%22">Galea B</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Reid+J%22">Reid J</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Gooley+S%22">Gooley S</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Witkowski+T%22">Witkowski T</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Lane+T%22">Lane T</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Macdonald+S%22">Macdonald S</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Green+TE%22">Green TE</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Ye+Z%22">Ye Z</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Adikari+T%22">Adikari T</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Bulluss+K%22">Bulluss K</searchLink>; Department of Neurosurgery, Austin Health, Heidelberg, Victoria, 3084 Australia.<br /><searchLink fieldCode="AU" term="%22Mullen+SA%22">Mullen SA</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Bennett+CA%22">Bennett CA</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Forster+B%22">Forster B</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Bradshaw+G%22">Bradshaw G</searchLink>; Molecular Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia.<br /><searchLink fieldCode="AU" term="%22Lin+W%22">Lin W</searchLink>; Molecular Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia.<br /><searchLink fieldCode="AU" term="%22De+Silva+W%22">De Silva W</searchLink>; Molecular Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia.<br /><searchLink fieldCode="AU" term="%22Ramirez+RB%22">Ramirez RB</searchLink>; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, 02115 United States of America.<br /><searchLink fieldCode="AU" term="%22Khoshkhoo+S%22">Khoshkhoo S</searchLink>; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, 02115 United States of America.; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston, Massachusetts, 02115 United States of America.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, 02142 United States of America.<br /><searchLink fieldCode="AU" term="%22Gupta+S%22">Gupta S</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.<br /><searchLink fieldCode="AU" term="%22Krivanek+M%22">Krivanek M</searchLink>; Department of Histopathology, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.<br /><searchLink fieldCode="AU" term="%22Kothur+K%22">Kothur K</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.; University of Sydney, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.; Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.<br /><searchLink fieldCode="AU" term="%22Gill+D%22">Gill D</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.; University of Sydney, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.; Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.<br /><searchLink fieldCode="AU" term="%22Pope+K%22">Pope K</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Gillies+G%22">Gillies G</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Coleman+M%22">Coleman M</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Lee+WS%22">Lee WS</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Stephenson+SM%22">Stephenson SM</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Maixner+W%22">Maixner W</searchLink>; Department of Neurosurgery, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Harvey+AS%22">Harvey AS</searchLink>; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Macdonald-Laurs+E%22">Macdonald-Laurs E</searchLink>; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22D'Arcy+C%22">D'Arcy C</searchLink>; Department of Anatomical Pathology, The Royal Children's Hospital, Parkville, Victoria 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Lockhart+PJ%22">Lockhart PJ</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Leventer+RJ%22">Leventer RJ</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Kalnins+RM%22">Kalnins RM</searchLink>; Anatomical Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia.<br /><searchLink fieldCode="AU" term="%22Clark+J%22">Clark J</searchLink>; Anatomical Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia.<br /><searchLink fieldCode="AU" term="%22Bennett+MF%22">Bennett MF</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Bahlo+M%22">Bahlo M</searchLink>; Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.; Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Perucca+P%22">Perucca P</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Berkovic+SF%22">Berkovic SF</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Hildebrand+MS%22">Hildebrand MS</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
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