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Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.

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Title: Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.
Authors: Berecki G; Ion Channels and Human Disease Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia.; Department of the Florey Institute, University of Melbourne, Parkville, VIC 3050, Australia., Tao E; Division of Biomedical Science and Biochemistry, Research School of Biology, Australian National University, Canberra, ACT 2601, Australia., Howell KB; Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia.; Neuroscience, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Coorg RK; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA., Andersen E; Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand., Kahlig K; Praxis Precision Medicines, Inc., Cambridge, MA 02142, USA., Wolff M; Swiss Epilepsy Center, Klinik Lengg, Zürich 8001, Switzerland., Corry B; Division of Biomedical Science and Biochemistry, Research School of Biology, Australian National University, Canberra, ACT 2601, Australia., Petrou S; Ion Channels and Human Disease Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia.; Department of the Florey Institute, University of Melbourne, Parkville, VIC 3050, Australia.; Praxis Precision Medicines, Inc., Cambridge, MA 02142, USA.
Source: Brain : a journal of neurology [Brain] 2025 Jan 07; Vol. 148 (1), pp. 212-226.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.
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  Data: <searchLink fieldCode="AU" term="%22Berecki+G%22">Berecki G</searchLink>; Ion Channels and Human Disease Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia.; Department of the Florey Institute, University of Melbourne, Parkville, VIC 3050, Australia.<br /><searchLink fieldCode="AU" term="%22Tao+E%22">Tao E</searchLink>; Division of Biomedical Science and Biochemistry, Research School of Biology, Australian National University, Canberra, ACT 2601, Australia.<br /><searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink>; Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia.; Neuroscience, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Coorg+RK%22">Coorg RK</searchLink>; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Andersen+E%22">Andersen E</searchLink>; Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand.<br /><searchLink fieldCode="AU" term="%22Kahlig+K%22">Kahlig K</searchLink>; Praxis Precision Medicines, Inc., Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Wolff+M%22">Wolff M</searchLink>; Swiss Epilepsy Center, Klinik Lengg, Zürich 8001, Switzerland.<br /><searchLink fieldCode="AU" term="%22Corry+B%22">Corry B</searchLink>; Division of Biomedical Science and Biochemistry, Research School of Biology, Australian National University, Canberra, ACT 2601, Australia.<br /><searchLink fieldCode="AU" term="%22Petrou+S%22">Petrou S</searchLink>; Ion Channels and Human Disease Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia.; Department of the Florey Institute, University of Melbourne, Parkville, VIC 3050, Australia.; Praxis Precision Medicines, Inc., Cambridge, MA 02142, USA.
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  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2025 Jan 07; Vol. 148 (1), pp. 212-226.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372537 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2156 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200068950%22">00068950 </searchLink><i>NLM ISO Abbreviation: </i>Brain <i>Subsets: </i>MEDLINE
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        Value: 10.1093/brain/awae213
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      – Code: eng
        Text: English
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      – TitleFull: Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.
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              Text: 2025 Jan 07
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