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

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Bibliographic Details
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
Database: MEDLINE Ultimate
Description
ISSN:1528-1167
DOI:10.1002/epi.70100