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Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

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Title: Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.
Authors: Tan M; Ion Channels and Human Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia., Goad BS; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Allen M; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Rodda J; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Physiotherapy, University of Melbourne, Parkville, Victoria, Australia., Richards KL; Ion Channels and Human Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia., Ardern-Holmes SL; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Bamborschke D; Department of Pediatric Neurology, Children's Hospital, University Hospital, Bonn, Germany., Fritzen D; Department of Pediatric Neurology, Children's Hospital, University Hospital, Bonn, Germany., Hughes I; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Riney K; Neurosciences Unit, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; School of Medicine, University of Queensland, Brisbane, Queensland, Australia., Martinez AR; Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació, Barcelona, Spain., Russo A; Istituto di Ricovero e Cura a Carattere Scientifico Istituto Delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria Dell'età Pediatrica, Bologna, Italy., Sinclair A; Neurosciences Unit, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Sartori S; Pediatric Neurology and Neurophysiology Unit, University Hospital of Padua, Padua, Italy., Trivisano M; Neurology, Epilepsy, and Movement Disorders Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, full member of European Reference Network EpiCARE, Rome, Italy., De Dominicis A; Neurology, Epilepsy, and Movement Disorders Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, full member of European Reference Network EpiCARE, Rome, Italy., Specchio N; Neurology, Epilepsy, and Movement Disorders Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, full member of European Reference Network EpiCARE, Rome, Italy., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Scheffer IE; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.; Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne, Victoria, Australia., Fazeli W; Department of Pediatric Neurology, Children's Hospital, University Hospital, Bonn, Germany., Wolff M; Swiss Epilepsy Center, Klinik Lengg, Zürich, Switzerland., Petrou S; Ion Channels and Human Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Praxis Precision Medicines, Cambridge, Massachusetts, USA.; Department of the Florey Institute, University of Melbourne, Parkville, Victoria, Australia., Howell KB; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Berecki G; Ion Channels and Human Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Department of the Florey Institute, University of Melbourne, Parkville, Victoria, Australia.
Source: Epilepsia [Epilepsia] 2026 May; Vol. 67 (5), pp. 2628-2653. Date of Electronic Publication: 2026 Feb 05.
Publication Type: Journal Article
Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
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  Data: Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Tan+M%22">Tan M</searchLink>; Ion Channels and Human Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Goad+BS%22">Goad BS</searchLink>; Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Allen+M%22">Allen M</searchLink>; Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Rodda+J%22">Rodda J</searchLink>; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Physiotherapy, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Richards+KL%22">Richards KL</searchLink>; Ion Channels and Human Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Ardern-Holmes+SL%22">Ardern-Holmes SL</searchLink>; T. 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Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Bamborschke+D%22">Bamborschke D</searchLink>; Department of Pediatric Neurology, Children's Hospital, University Hospital, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Fritzen+D%22">Fritzen D</searchLink>; Department of Pediatric Neurology, Children's Hospital, University Hospital, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Hughes+I%22">Hughes I</searchLink>; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.<br /><searchLink fieldCode="AU" term="%22Riney+K%22">Riney K</searchLink>; Neurosciences Unit, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; School of Medicine, University of Queensland, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Martinez+AR%22">Martinez AR</searchLink>; Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Russo+A%22">Russo A</searchLink>; Istituto di Ricovero e Cura a Carattere Scientifico Istituto Delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria Dell'età Pediatrica, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Sinclair+A%22">Sinclair A</searchLink>; Neurosciences Unit, Queensland Children's Hospital, South Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Sartori+S%22">Sartori S</searchLink>; Pediatric Neurology and Neurophysiology Unit, University Hospital of Padua, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Trivisano+M%22">Trivisano M</searchLink>; Neurology, Epilepsy, and Movement Disorders Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, full member of European Reference Network EpiCARE, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22De+Dominicis+A%22">De Dominicis A</searchLink>; Neurology, Epilepsy, and Movement Disorders Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, full member of European Reference Network EpiCARE, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Specchio+N%22">Specchio N</searchLink>; Neurology, Epilepsy, and Movement Disorders Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, full member of European Reference Network EpiCARE, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.; Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Fazeli+W%22">Fazeli W</searchLink>; Department of Pediatric Neurology, Children's Hospital, University Hospital, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Wolff+M%22">Wolff M</searchLink>; Swiss Epilepsy Center, Klinik Lengg, Zürich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Petrou+S%22">Petrou S</searchLink>; Ion Channels and Human Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Praxis Precision Medicines, Cambridge, Massachusetts, USA.; Department of the Florey Institute, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink>; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Berecki+G%22">Berecki G</searchLink>; Ion Channels and Human Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Department of the Florey Institute, University of Melbourne, Parkville, Victoria, Australia.
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  Data: <searchLink fieldCode="JN" term="%222983306R%22">Epilepsia</searchLink> [Epilepsia] 2026 May; Vol. 67 (5), pp. 2628-2653. <i>Date of Electronic Publication: </i>2026 Feb 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Blackwell+Science%22">Blackwell Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>2983306R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1528-1167 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200139580%22">00139580 </searchLink><i>NLM ISO Abbreviation: </i>Epilepsia <i>Subsets: </i>MEDLINE
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