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SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.

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Title: SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Authors: Kobayashi Takahashi Y; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Tabata K; Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Baba S; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Takeshita E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Sumitomo N; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Shimizu-Motohashi Y; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Saito T; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Nakagawa E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Ishii A; Department of Neurology, University of Arizona, Tucson, Arizona, USA., Hirose S; General Medical Research Center, School of Medicine, Fukuoka University, Fukuoka, Japan., Kato M; Department of Pediatrics, Showa Medical University School of Medicine, Tokyo, Japan.; Epilepsy Medical Center, Showa Medical University Hospital, Tokyo, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan., Komaki H; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Inoue K; Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
Source: Epilepsia open [Epilepsia Open] 2025 Aug; Vol. 10 (4), pp. 1236-1243. Date of Electronic Publication: 2025 Jun 18.
Publication Type: Journal Article
Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
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  Data: <searchLink fieldCode="AU" term="%22Kobayashi+Takahashi+Y%22">Kobayashi Takahashi Y</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Tabata+K%22">Tabata K</searchLink>; Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Baba+S%22">Baba S</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Takeshita+E%22">Takeshita E</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Sumitomo+N%22">Sumitomo N</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Shimizu-Motohashi+Y%22">Shimizu-Motohashi Y</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Saito+T%22">Saito T</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Nakagawa+E%22">Nakagawa E</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Ishii+A%22">Ishii A</searchLink>; Department of Neurology, University of Arizona, Tucson, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Hirose+S%22">Hirose S</searchLink>; General Medical Research Center, School of Medicine, Fukuoka University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Kato+M%22">Kato M</searchLink>; Department of Pediatrics, Showa Medical University School of Medicine, Tokyo, Japan.; Epilepsy Medical Center, Showa Medical University Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Matsumoto+N%22">Matsumoto N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Komaki+H%22">Komaki H</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Inoue+K%22">Inoue K</searchLink>; Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%2C+Inc%22">John Wiley & Sons, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101692036 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2470-9239 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2224709239%22">24709239 </searchLink><i>NLM ISO Abbreviation: </i>Epilepsia Open <i>Subsets: </i>MEDLINE
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              Text: 2025 Aug
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