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Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.

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Title: Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.
Authors: Lim SM; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard University and MIT, Cambridge, MA, USA., Kim S; Department of Convergence Medicine, Korea University College of Medicine, Seoul, Republic of Korea.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea., Park J; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea., Kim YE; Department of Laboratory Medicine, College of Medicine, Hanyang University, Seoul, Republic of Korea., Na OC; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea., Nahm M; Dementia Research Group, Korea Brain Research Institute, Daegu, Republic of Korea., Noh MY; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea., Oh KW; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea., Ki CS; GC Genome, Yongin, Republic of Korea., Shin WH; Department of Biomedical Informatics, Korea University College of Medicine, Seoul, Republic of Korea., Park HC; Department of Convergence Medicine, Korea University College of Medicine, Seoul, Republic of Korea. hcpark67@korea.ac.kr.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea. hcpark67@korea.ac.kr., Kim SH; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea. kimsh1@hanyang.ac.kr.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea. kimsh1@hanyang.ac.kr.
Source: Journal of translational medicine [J Transl Med] 2026 May 11; Vol. 24 (1). Date of Electronic Publication: 2026 May 11.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.
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  Data: <searchLink fieldCode="AU" term="%22Lim+SM%22">Lim SM</searchLink>; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard University and MIT, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Kim+S%22">Kim S</searchLink>; Department of Convergence Medicine, Korea University College of Medicine, Seoul, Republic of Korea.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Park+J%22">Park J</searchLink>; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+YE%22">Kim YE</searchLink>; Department of Laboratory Medicine, College of Medicine, Hanyang University, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Na+OC%22">Na OC</searchLink>; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Nahm+M%22">Nahm M</searchLink>; Dementia Research Group, Korea Brain Research Institute, Daegu, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Noh+MY%22">Noh MY</searchLink>; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Oh+KW%22">Oh KW</searchLink>; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Ki+CS%22">Ki CS</searchLink>; GC Genome, Yongin, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Shin+WH%22">Shin WH</searchLink>; Department of Biomedical Informatics, Korea University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Park+HC%22">Park HC</searchLink>; Department of Convergence Medicine, Korea University College of Medicine, Seoul, Republic of Korea. hcpark67@korea.ac.kr.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea. hcpark67@korea.ac.kr.<br /><searchLink fieldCode="AU" term="%22Kim+SH%22">Kim SH</searchLink>; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea. kimsh1@hanyang.ac.kr.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea. kimsh1@hanyang.ac.kr.
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  Data: <searchLink fieldCode="JN" term="%22101190741%22">Journal of translational medicine</searchLink> [J Transl Med] 2026 May 11; Vol. 24 (1). <i>Date of Electronic Publication: </i>2026 May 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101190741 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-5876 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214795876%22">14795876 </searchLink><i>NLM ISO Abbreviation: </i>J Transl Med <i>Subsets: </i>MEDLINE
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              Text: 2026 May 11
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