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Unveiling β Subunit-Dependent Gating Defects in CaV2.1 Channelopathies: Investigation of a de novo CACNA1A Variant.

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Title: Unveiling β Subunit-Dependent Gating Defects in CaV2.1 Channelopathies: Investigation of a de novo CACNA1A Variant.
Authors: Ma K; Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China., Chen H; Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China.; University of Chinese Academy of Sciences, Beijing, 100049, China., Chen L; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518038, China., Zhao S; Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China., Zou H; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518038, China., Zou D; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518038, China., Zeng Q; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518038, China., Cao D; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518038, China.; Surgery Division, Epilepsy Center, Shenzhen Children's Hospital, Shenzhen, 518038, China.; CAS Key Laboratory of Brain Connectome and Manipulation, Shenzhen Institutes of Advanced Technology, Shenzhen-Hong Kong Institute of Brain Science, Chinese Academy of Sciences, Shenzhen, 518055, China.; SCH-SIAT Joint Laboratory for Epilepsy Research, Shenzhen Children's Hospital, Shenzhen, 518038, China., Sun J; Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China. jy.sun1@siat.ac.cn.; CAS Key Laboratory of Brain Connectome and Manipulation, Shenzhen Institutes of Advanced Technology, Shenzhen-Hong Kong Institute of Brain Science, Chinese Academy of Sciences, Shenzhen, 518055, China. jy.sun1@siat.ac.cn.; SCH-SIAT Joint Laboratory for Epilepsy Research, Shenzhen Children's Hospital, Shenzhen, 518038, China. jy.sun1@siat.ac.cn.; Faculty of Life and Health Sciences, Shenzhen University of Advanced Technology, Shenzhen, 518055, China. jy.sun1@siat.ac.cn., Li L; Surgery Division, Epilepsy Center, Shenzhen Children's Hospital, Shenzhen, 518038, China. ls19821109@163.com.; SCH-SIAT Joint Laboratory for Epilepsy Research, Shenzhen Children's Hospital, Shenzhen, 518038, China. ls19821109@163.com., Shen X; Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China. xf.shen@siat.ac.cn.; CAS Key Laboratory of Brain Connectome and Manipulation, Shenzhen Institutes of Advanced Technology, Shenzhen-Hong Kong Institute of Brain Science, Chinese Academy of Sciences, Shenzhen, 518055, China. xf.shen@siat.ac.cn.; SCH-SIAT Joint Laboratory for Epilepsy Research, Shenzhen Children's Hospital, Shenzhen, 518038, China. xf.shen@siat.ac.cn.
Source: Neuroscience bulletin [Neurosci Bull] 2026 Jan; Vol. 42 (1), pp. 215-220. Date of Electronic Publication: 2025 Sep 18.
Publication Type: Letter
Journal Info: Publisher: Springer Singapore Country of Publication: Singapore NLM ID: 101256850 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1995-8218 (Electronic) Linking ISSN: 19958218 NLM ISO Abbreviation: Neurosci Bull Subsets: MEDLINE; In Process
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  Data: Unveiling β Subunit-Dependent Gating Defects in Ca<subscript>V</subscript>2.1 Channelopathies: Investigation of a de novo CACNA1A Variant.
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  Data: <searchLink fieldCode="AU" term="%22Ma+K%22">Ma K</searchLink>; Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China.<br /><searchLink fieldCode="AU" term="%22Chen+H%22">Chen H</searchLink>; Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China.; University of Chinese Academy of Sciences, Beijing, 100049, China.<br /><searchLink fieldCode="AU" term="%22Chen+L%22">Chen L</searchLink>; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518038, China.<br /><searchLink fieldCode="AU" term="%22Zhao+S%22">Zhao S</searchLink>; Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China.<br /><searchLink fieldCode="AU" term="%22Zou+H%22">Zou H</searchLink>; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518038, China.<br /><searchLink fieldCode="AU" term="%22Zou+D%22">Zou D</searchLink>; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518038, China.<br /><searchLink fieldCode="AU" term="%22Zeng+Q%22">Zeng Q</searchLink>; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518038, China.<br /><searchLink fieldCode="AU" term="%22Cao+D%22">Cao D</searchLink>; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518038, China.; Surgery Division, Epilepsy Center, Shenzhen Children's Hospital, Shenzhen, 518038, China.; CAS Key Laboratory of Brain Connectome and Manipulation, Shenzhen Institutes of Advanced Technology, Shenzhen-Hong Kong Institute of Brain Science, Chinese Academy of Sciences, Shenzhen, 518055, China.; SCH-SIAT Joint Laboratory for Epilepsy Research, Shenzhen Children's Hospital, Shenzhen, 518038, China.<br /><searchLink fieldCode="AU" term="%22Sun+J%22">Sun J</searchLink>; Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China. jy.sun1@siat.ac.cn.; CAS Key Laboratory of Brain Connectome and Manipulation, Shenzhen Institutes of Advanced Technology, Shenzhen-Hong Kong Institute of Brain Science, Chinese Academy of Sciences, Shenzhen, 518055, China. jy.sun1@siat.ac.cn.; SCH-SIAT Joint Laboratory for Epilepsy Research, Shenzhen Children's Hospital, Shenzhen, 518038, China. jy.sun1@siat.ac.cn.; Faculty of Life and Health Sciences, Shenzhen University of Advanced Technology, Shenzhen, 518055, China. jy.sun1@siat.ac.cn.<br /><searchLink fieldCode="AU" term="%22Li+L%22">Li L</searchLink>; Surgery Division, Epilepsy Center, Shenzhen Children's Hospital, Shenzhen, 518038, China. ls19821109@163.com.; SCH-SIAT Joint Laboratory for Epilepsy Research, Shenzhen Children's Hospital, Shenzhen, 518038, China. ls19821109@163.com.<br /><searchLink fieldCode="AU" term="%22Shen+X%22">Shen X</searchLink>; Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China. xf.shen@siat.ac.cn.; CAS Key Laboratory of Brain Connectome and Manipulation, Shenzhen Institutes of Advanced Technology, Shenzhen-Hong Kong Institute of Brain Science, Chinese Academy of Sciences, Shenzhen, 518055, China. xf.shen@siat.ac.cn.; SCH-SIAT Joint Laboratory for Epilepsy Research, Shenzhen Children's Hospital, Shenzhen, 518038, China. xf.shen@siat.ac.cn.
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              Text: 2026 Jan
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