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. |
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| 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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| ISSN: | 2470-9239 |
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| DOI: | 10.1002/epi4.70080 |
