{"id":436,"date":"2024-08-06T14:34:17","date_gmt":"2024-08-06T05:34:17","guid":{"rendered":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/?p=436"},"modified":"2024-08-06T14:38:41","modified_gmt":"2024-08-06T05:38:41","slug":"%e5%b0%8f%e5%85%90%e5%9b%9b%e8%82%a2%e7%96%bc%e7%97%9b%e7%99%ba%e4%bd%9c%e7%97%87%e3%81%ab%e3%81%a4%e3%81%84%e3%81%a6%e3%81%ae%e8%ab%96%e6%96%87%e7%b4%b9%e4%bb%8b","status":"publish","type":"post","link":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/?p=436","title":{"rendered":"\u5c0f\u5150\u56db\u80a2\u75bc\u75db\u767a\u4f5c\u75c7\u306b\u3064\u3044\u3066\u306e\u8ad6\u6587\u7d39\u4ecb"},"content":{"rendered":"\n<p><strong><a href=\"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/wp-content\/uploads\/sites\/9\/2024\/08\/SCN11AL811F-PDF.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">1\uff0eFamilial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C&gt;T (p.Leu811Phe) in SCN11A.<\/a><\/strong><br><br>Nagao C, Okuda H, Bekker GJ, Noguchi A, Takahashi T, Koizumi A, Youssefian S, Tezuka T, Akioka S.<br>Biochem Genet. 2024 Jul 25. doi: 10.1007\/s10528-024-10888-1. Online ahead of print.<br>PMID: 39058404<br>The affected residue, Leu811, is located within the DII\/S6 helix of Nav1.9 and is important for signal transduction from the voltage-sensing domain and pore opening. &#8230;By contrast, CIP-related p.Leu811Pro destabilized Nav1.9. Thus, we speculate that p \u2026<\/p>\n\n\n\n<div style=\"height:50px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong><a href=\"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/wp-content\/uploads\/sites\/9\/2024\/08\/ijms-25-06832.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">2\uff0eGenetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.<\/a><\/strong><br><br>Noguchi A, Tezuka T, Okuda H, Kobayashi H, Harada KH, Yoshida T, Akioka S, Wada K, Takeya A, Kabata-Murasawa R, Kondo D, Ishikawa K, Asano T, Fujiwara M, Hishikawa N, Mizukami T, Hitomi T, Youssefian S, Nagai Y, Tanaka M, Eto K, Shiraishi H, Amaya F, Koizumi A, Takahashi T.<br>Int J Mol Sci. 2024 Jun 21;25(13):6832. doi: 10.3390\/ijms25136832.<\/p>\n\n\n\n<div style=\"height:100px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n","protected":false},"excerpt":{"rendered":"<p>1\uff0eFamilial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.<br \/>\n2\uff0eGenetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.<\/p>\n","protected":false},"author":1,"featured_media":441,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"sns_share_botton_hide":"","vkExUnit_sns_title":"","_vk_print_noindex":"","sitemap_hide":"","vkExUnit_EyeCatch_disable":"true","_veu_custom_css":"","veu_display_promotion_alert":"common","vkexunit_cta_each_option":"","header_top_description":"","footnotes":""},"categories":[5],"tags":[],"class_list":["post-436","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-5"],"veu_head_title_object":{"title":"","add_site_title":""},"lightning_design_setting_object":{"layout":"default","hidden_page_header":"","hidden_breadcrumb":"","siteContent_padding":"","header_trans":"","section_base":"default"},"_links":{"self":[{"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=\/wp\/v2\/posts\/436"}],"collection":[{"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=436"}],"version-history":[{"count":5,"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=\/wp\/v2\/posts\/436\/revisions"}],"predecessor-version":[{"id":444,"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=\/wp\/v2\/posts\/436\/revisions\/444"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=\/wp\/v2\/media\/441"}],"wp:attachment":[{"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=436"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=436"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/kyoto-hokenkai.or.jp\/shmwl\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=436"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}