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. |
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| 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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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awae213 |
