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KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

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Title: KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.
Authors: Jadhav T; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Bouffler SE; Australian Genomics, Melbourne, Victoria, Australia., Innes E; Kids Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Fahey M; Department of Pediatric Neurology, Monash Health, Melbourne, Victoria, Australia.; Department of Pediatrics, Monash University, Melbourne, Victoria, Australia., Hunter M; Department of Pediatrics, Monash University, Melbourne, Victoria, Australia.; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Genetic Counselling Liaison Service, Queensland Children's Hospital, Brisbane, Queensland, Australia., Kothur K; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia., Lynch M; Neurosciences Unit, Queensland Children's Hospital, Brisbane, Queensland, Australia., Macdonald-Laurs E; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia., Palmer EE; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; UNSW Medicine and Health, The University of New South Wales, Sydney, New South Wales, Australia., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Pinner J; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; UNSW Medicine and Health, The University of New South Wales, Sydney, New South Wales, Australia., Riney K; Neurosciences Unit, Queensland Children's Hospital, Brisbane, Queensland, Australia.; Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; UNSW Medicine and Health, The University of New South Wales, Sydney, New South Wales, Australia., Sandaradura SA; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia., Scheffer IE; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia., Stark Z; Australian Genomics, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia., Howell KB; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
Source: Epilepsia open [Epilepsia Open] 2026 Jun; Vol. 11 (3), pp. 949-961. Date of Electronic Publication: 2026 May 04.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.
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  Data: <searchLink fieldCode="AU" term="%22Jadhav+T%22">Jadhav T</searchLink>; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Bouffler+SE%22">Bouffler SE</searchLink>; Australian Genomics, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Innes+E%22">Innes E</searchLink>; Kids Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Fahey+M%22">Fahey M</searchLink>; Department of Pediatric Neurology, Monash Health, Melbourne, Victoria, Australia.; Department of Pediatrics, Monash University, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Hunter+M%22">Hunter M</searchLink>; Department of Pediatrics, Monash University, Melbourne, Victoria, Australia.; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Genetic Counselling Liaison Service, Queensland Children's Hospital, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Kothur+K%22">Kothur K</searchLink>; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Lunke+S%22">Lunke S</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Lynch+M%22">Lynch M</searchLink>; Neurosciences Unit, Queensland Children's Hospital, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Macdonald-Laurs+E%22">Macdonald-Laurs E</searchLink>; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Palmer+EE%22">Palmer EE</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; UNSW Medicine and Health, The University of New South Wales, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Patel+C%22">Patel C</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Pinner+J%22">Pinner J</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; UNSW Medicine and Health, The University of New South Wales, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Riney+K%22">Riney K</searchLink>; Neurosciences Unit, Queensland Children's Hospital, Brisbane, Queensland, Australia.; Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Sachdev+R%22">Sachdev R</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; UNSW Medicine and Health, The University of New South Wales, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Sandaradura+SA%22">Sandaradura SA</searchLink>; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Australian Genomics, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink>; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
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  Data: <searchLink fieldCode="JN" term="%22101692036%22">Epilepsia open</searchLink> [Epilepsia Open] 2026 Jun; Vol. 11 (3), pp. 949-961. <i>Date of Electronic Publication: </i>2026 May 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%2C+Inc%22">John Wiley & Sons, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101692036 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2470-9239 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2224709239%22">24709239 </searchLink><i>NLM ISO Abbreviation: </i>Epilepsia Open <i>Subsets: </i>MEDLINE
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        Value: 10.1002/epi4.70266
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