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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
Database: MEDLINE Ultimate
Description
ISSN:1995-8218
DOI:10.1007/s12264-025-01508-y