Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.

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第一作者： Chioko,Nagao

第一单位： Institute for Protein Research, Osaka University, Osaka, Japan.

作者： Chioko,Nagao ^[1] ; Hiroko,Okuda ^[2] ; Gert-Jan,Bekker ^[1] ; Atsuko,Noguchi ^[3] ; Tsutomu,Takahashi ^[3] ; Akio,Koizumi ^[4] ; Shohab,Youssefian ^[5] ; Tohru,Tezuka ^[6] ; Shinji,Akioka ^[7]

作者单位： Institute for Protein Research, Osaka University, Osaka, Japan. ^[1] Department of Pain Pharmacogenetics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.;Department of Preventive Medicine, St. Marianna University School of Medicine, Kanagawa, Japan. ^[2] Department of Pediatrics, Akita University School of Medicine, Akita, Japan. ^[3] Department of Pain Pharmacogenetics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.;Institute of Public Health and Welfare, Kyoto-Hokenkai, Kyoto, Japan. ^[4] Department of Pain Pharmacogenetics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.;Laboratory of Molecular Biosciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan. ^[5] Department of Pain Pharmacogenetics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. tezuka.toru.8w@kyoto-u.ac.jp.;Laboratory of Molecular Biosciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan. tezuka.toru.8w@kyoto-u.ac.jp.;Laboratory of Integrative Molecular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan. tezuka.toru.8w@kyoto-u.ac.jp. ^[6] Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. sakioka@koto.kpu-m.ac.jp. ^[7]

关键词 SCN11A gene Familial episodic pain syndrome Molecular dynamics Nav1.9

DOI 10.1007/s10528-024-10888-1

PMID 39058404

发布时间 2024-07-26

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Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.

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Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C&gt;T (p.Leu811Phe) in SCN11A.

Biochemical genetics

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Biochemical genetics

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Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.