{"id":123208,"date":"2026-01-16T11:33:08","date_gmt":"2026-01-16T02:33:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123208"},"modified":"2026-03-31T12:17:56","modified_gmt":"2026-03-31T03:17:56","slug":"developmental-epileptic-encephalopathy-13-scn8a-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/","title":{"rendered":"\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c713\u578b\uff08Developmental and epileptic encephalopathy 13\uff09"},"content":{"rendered":"\n<p>\u533b\u5e2b\u304b\u3089Developmental and epileptic encephalopathy 13\u3068\u3044\u3046\u975e\u5e38\u306b\u9577\u304f\u3001\u96e3\u89e3\u306a\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u3054\u5bb6\u65cf\u306e\u7686\u69d8\u3078\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u3001\u3042\u308b\u3044\u306f\u751f\u5f8c\u6570\u30f6\u6708\u306e\u304a\u5b50\u69d8\u306b\u3001\u65e5\u672c\u8a9e\u306e\u5b9a\u307e\u3063\u305f\u547c\u3073\u65b9\u3082\u307e\u3060\u6d78\u900f\u3057\u3066\u3044\u306a\u3044\u3088\u3046\u306a\u96e3\u75c5\u306e\u8a3a\u65ad\u304c\u4e0b\u308a\u3001\u8a08\u308a\u77e5\u308c\u306a\u3044\u30b7\u30e7\u30c3\u30af\u3068\u4e0d\u5b89\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u3053\u306e\u75c5\u6c17\u306f\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5e0c\u5c11\u75be\u60a3\u306e\u4e00\u3064\u306b\u6570\u3048\u3089\u308c\u308b\u305f\u3081\u3001\u65e5\u672c\u8a9e\u3067\u66f8\u304b\u308c\u305f\u8a73\u3057\u3044\u60c5\u5831\u306f\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u3067\u3082\u307b\u3068\u3093\u3069\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3002\u533b\u5e2b\u3067\u3042\u3063\u3066\u3082\u3001\u3066\u3093\u304b\u3093\u3084\u907a\u4f1d\u306e\u5c02\u9580\u5bb6\u3067\u306a\u3051\u308c\u3070\u8a73\u3057\u304f\u77e5\u3089\u306a\u3044\u3053\u3068\u3082\u73cd\u3057\u304f\u306a\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9577\u3044\u8a3a\u65ad\u540d\u3092\u65e5\u672c\u8a9e\u306b\u8a33\u3059\u3068\u3001\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c713\u578b\u3068\u306a\u308a\u307e\u3059\u3002\u533b\u7642\u73fe\u5834\u3067\u306f\u3001\u982d\u6587\u5b57\u3092\u3068\u3063\u3066DEE13\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3092\u3068\u3063\u3066SCN8A\u95a2\u9023\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3084SCN8A\u95a2\u9023\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u5897\u3048\u3066\u304a\u308a\u3001\u6d77\u5916\u306e\u60a3\u8005\u4f1a\u306a\u3069\u3067\u306f\u3053\u3061\u3089\u306e\u547c\u3073\u65b9\u304c\u4e3b\u6d41\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e73\u5150\u671f\u65e9\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u59cb\u307e\u308a\u3001\u305d\u308c\u3068\u3068\u3082\u306b\u5168\u4f53\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u3084\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u7570\u5e38\u306a\u3069\u306e\u904b\u52d5\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u539f\u56e0\u3068\u3057\u3066\u3001SCN8A\u3068\u3044\u3046\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u3066\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u75c7\u3068\u3044\u3046\u8a00\u8449\u308413\u578b\u3068\u3044\u3046\u6570\u5b57\u306b\u5727\u5012\u3055\u308c\u3066\u3057\u307e\u3046\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u6570\u5b57\u306f\u767a\u898b\u3055\u308c\u305f\u9806\u756a\u3084\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306e\u756a\u53f7\u3067\u3042\u308a\u3001\u5358\u306b\u91cd\u75c7\u5ea6\u3092\u8868\u3059\u6570\u5b57\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u539f\u56e0\u304c\u907a\u4f1d\u5b50\u306b\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u305f\u3068\u3044\u3046\u3053\u3068\u306f\u3001\u3053\u308c\u304b\u3089\u8d77\u3053\u308a\u3046\u308b\u3053\u3068\u3078\u306e\u5bfe\u7b56\u304c\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u3001\u7279\u306b\u304a\u5b50\u3055\u3093\u306b\u5408\u3063\u305f\u304a\u85ac\u9078\u3073\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u306a\u6307\u91dd\u3092\u5f97\u305f\u3068\u3044\u3046\u3053\u3068\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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\u904b\u52d5\u969c\u5bb3\uff08\u30e0\u30fc\u30d6\u30e1\u30f3\u30c8\u30fb\u30c7\u30a3\u30b9\u30aa\u30fc\u30c0\u30fc\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/#4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E8%BA%AB%E4%BD%93%E7%97%87%E7%8A%B6\" >4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u75c7\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/#%E5%8E%9F%E5%9B%A0\" >\u539f\u56e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/#SCN8A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\" 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ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >\u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/#1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E6%B2%BB%E7%99%82%EF%BC%88%E8%96%AC%E9%81%B8%E3%81%B3%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7%EF%BC%89\" >1. \u3066\u3093\u304b\u3093\u306e\u6cbb\u7642\uff08\u85ac\u9078\u3073\u306e\u91cd\u8981\u6027\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/#2_%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E7%99%82%E8%82%B2%EF%BC%88%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\" >2. \u767a\u9054\u652f\u63f4\u3068\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/#3_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%AE%E3%82%B1%E3%82%A2\" >3. \u65e5\u5e38\u751f\u6d3b\u306e\u30b1\u30a2<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c713\u578b\uff08DEE13\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u50cd\u304d\u306b\u5f71\u97ff\u304c\u51fa\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u3001\u3053\u306e\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3068\u3044\u3046\u75c5\u540d\u30b0\u30eb\u30fc\u30d7\u306e\u610f\u5473\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u6027\u3068\u306f\u3001\u751f\u307e\u308c\u6301\u3063\u305f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u304c\u3001\u8133\u306e\u767a\u9054\u3084\u6210\u9577\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u304b\u3089\u767a\u9054\u304c\u9045\u308c\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u767a\u4f5c\u304c\u306a\u304f\u3066\u3082\u767a\u9054\u306b\u8ab2\u984c\u304c\u751f\u3058\u308b\u4f53\u8cea\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u6027\u3068\u306f\u3001\u983b\u7e41\u306a\u3066\u3093\u304b\u3093\u767a\u4f5c\u3084\u3001\u8133\u6ce2\u306e\u6fc0\u3057\u3044\u4e71\u308c\u304c\u3001\u8133\u306e\u6a5f\u80fd\u3084\u767a\u9054\u306b\u3055\u3089\u306a\u308b\u60aa\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u75c7\u3068\u306f\u3001\u8133\u5168\u4f53\u306e\u50cd\u304d\u306b\u5e83\u7bc4\u306a\u5f71\u97ff\u304c\u51fa\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3059\u533b\u5b66\u7528\u8a9e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001DEE13\u306f\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306b\u3088\u308b\u767a\u9054\u306e\u9045\u308c\u3068\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306b\u3088\u308b\u8133\u3078\u306e\u8ca0\u62c5\u306e\u4e8c\u3064\u306e\u8981\u7d20\u304c\u5408\u308f\u3055\u3063\u3066\u3001\u767a\u9054\u3084\u795e\u7d4c\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e13\u578b\u306f\u3001SCN8A\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c2012\u5e74\u9803\u306e\u7814\u7a76\u3067\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>SCN8A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001DEE13\u306e\u3088\u3046\u306a\u91cd\u5ea6\u306e\u3066\u3093\u304b\u3093\u3060\u3051\u3067\u306a\u304f\u3001\u826f\u6027\u5bb6\u65cf\u6027\u4e73\u5150\u3066\u3093\u304b\u3093\u306e\u3088\u3046\u306a\u8efd\u5ea6\u306a\u30bf\u30a4\u30d7\u3084\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u307f\u3067\u3066\u3093\u304b\u3093\u3092\u4f34\u308f\u306a\u3044\u30bf\u30a4\u30d7\u306a\u3069\u3001\u5e45\u5e83\u3044\u75c7\u72b6\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>DEE13\u3068\u3044\u3046\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u306f\u3001\u305d\u306e\u4e2d\u3067\u3082\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u304f\u3001\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u5927\u304d\u3044\u30bf\u30a4\u30d7\u3067\u3042\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u9069\u5207\u306a\u6cbb\u7642\u306b\u3088\u3063\u3066\u767a\u4f5c\u304c\u6e1b\u5c11\u3057\u3001\u767a\u9054\u304c\u4fc3\u3055\u308c\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5e0c\u671b\u3092\u6301\u3063\u3066\u5411\u304d\u5408\u3046\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DEE13\u306e\u75c7\u72b6\u306f\u3001\u7279\u5fb4\u7684\u306a\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u305d\u3057\u3066\u904b\u52d5\u6a5f\u80fd\u306e\u969c\u5bb3\u306e\u4e09\u3064\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u307e\u3059\u3002\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u3084\u51fa\u65b9\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C\"><\/span><strong>1. \u3066\u3093\u304b\u3093\u767a\u4f5c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u751f\u5f8c18\u30f6\u6708\u4ee5\u5185\u3001\u7279\u306b\u751f\u5f8c4\u30f6\u6708\u304b\u30896\u30f6\u6708\u9803\u307e\u3067\u306e\u4e73\u5150\u671f\u65e9\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u59cb\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u306e\u30bf\u30a4\u30d7<\/p>\n\n\n\n<p>\u767a\u4f5c\u306e\u5f62\u306f\u69d8\u3005\u3067\u3059\u304c\u3001DEE13\u3067\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30bf\u30a4\u30d7\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\u306f\u3001\u5168\u8eab\u304c\u786c\u76f4\u3057\u305f\u3042\u3068\u306b\u30ac\u30af\u30ac\u30af\u3068\u9707\u3048\u308b\u5927\u304d\u306a\u767a\u4f5c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5f37\u76f4\u767a\u4f5c\u306f\u3001\u624b\u8db3\u304c\u7a81\u3063\u5f35\u3063\u3066\u786c\u304f\u306a\u308a\u3001\u9854\u8272\u304c\u8d64\u304f\u306a\u3063\u305f\u308a\u9752\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u767a\u4f5c\u3067\u3059\u3002DEE13\u3067\u306f\u3053\u306e\u767a\u4f5c\u30bf\u30a4\u30d7\u304c\u975e\u5e38\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7126\u70b9\u767a\u4f5c\u306f\u3001\u4f53\u306e\u4e00\u90e8\u304c\u30d4\u30af\u30d4\u30af\u52d5\u3044\u305f\u308a\u3001\u8996\u7dda\u304c\u504f\u3063\u305f\u308a\u3059\u308b\u767a\u4f5c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u6027\u30b9\u30d1\u30ba\u30e0\u306f\u3001\u4e21\u624b\u3092\u5e83\u3052\u3066\u304a\u8f9e\u5100\u3092\u3059\u308b\u3088\u3046\u306a\u52d5\u4f5c\u3092\u7e70\u308a\u8fd4\u3059\u767a\u4f5c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u767a\u4f5c\u304c\u59cb\u307e\u308b\u3068\u6b62\u307e\u308a\u306b\u304f\u3044\u91cd\u7a4d\u72b6\u614b\u306b\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u767a\u4f5c\u304c\u8d77\u304d\u3066\u3044\u306a\u3044\u6642\u3067\u3082\u3001\u8133\u6ce2\u4e0a\u3067\u7570\u5e38\u306a\u96fb\u6c17\u6d3b\u52d5\u304c\u7d9a\u3044\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u96e3\u6cbb\u6027<\/p>\n\n\n\n<p>DEE13\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u306f\u3001\u4e00\u822c\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\u96e3\u6cbb\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3082\u767a\u4f5c\u3092\u5b8c\u5168\u306b\u6b62\u3081\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5f8c\u8ff0\u3059\u308b\u3088\u3046\u306b\u3001\u3053\u306e\u75c5\u6c17\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u5408\u3063\u305f\u7279\u5b9a\u306e\u304a\u85ac\u3092\u4f7f\u3046\u3053\u3068\u3067\u3001\u5287\u7684\u306b\u6539\u5584\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%99%BA%E9%81%94%E3%81%A8%E7%A5%9E%E7%B5%8C%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u767a\u9054\u3068\u795e\u7d4c\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u3068\u4e26\u3093\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede<\/p>\n\n\n\n<p>\u767a\u4f5c\u304c\u59cb\u307e\u308b\u524d\u306f\u9806\u8abf\u306b\u80b2\u3063\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u767a\u4f5c\u304c\u59cb\u307e\u308b\u3068\u767a\u9054\u304c\u505c\u6ede\u3057\u305f\u308a\u3001\u3067\u304d\u3066\u3044\u305f\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u9000\u884c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9996\u304c\u3059\u308f\u308b\u3001\u76ee\u3067\u3082\u306e\u3092\u8ffd\u3046\u3001\u304a\u5ea7\u308a\u3092\u3059\u308b\u3001\u6b69\u304f\u3068\u3044\u3063\u305f\u904b\u52d5\u9762\u306e\u767a\u9054\u3068\u3001\u3042\u3084\u3059\u3068\u7b11\u3046\u3001\u8a00\u8449\u3092\u7406\u89e3\u3059\u308b\u3068\u3044\u3063\u305f\u7cbe\u795e\u9762\u306e\u767a\u9054\u306e\u4e21\u65b9\u304c\u3001\u4e00\u822c\u7684\u306a\u30da\u30fc\u30b9\u3088\u308a\u3082\u304b\u306a\u308a\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3044\u307e\u3059\u3002\u8a00\u8449\u306b\u3088\u308b\u4f1a\u8a71\u306f\u96e3\u3057\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u58f0\u306e\u30c8\u30fc\u30f3\u3084\u8868\u60c5\u3001\u5168\u8eab\u306e\u52d5\u304d\u3067\u5feb\u30fb\u4e0d\u5feb\u306a\u3069\u306e\u611f\u60c5\u3092\u4f1d\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b4b\u7dca\u5f35\u306e\u7570\u5e38<\/p>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u3001\u4f53\u304c\u3075\u306b\u3083\u3075\u306b\u3083\u3068\u3057\u3066\u67d4\u3089\u304b\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u4f53\u5e79\uff08\u4f53\u306e\u4e2d\u5fc3\uff09\u304c\u5f31\u304f\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u306e\u304c\u96e3\u3057\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u9006\u306b\u624b\u8db3\u306e\u7b4b\u8089\u304c\u7a81\u3063\u5f35\u3063\u3066\u786c\u304f\u306a\u308b\u75d9\u7e2e\u3084\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u9ad8\u307e\u308a\u3059\u304e\u308b\u904e\u7dca\u5f35\u304c\u898b\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%81%8B%E5%8B%95%E9%9A%9C%E5%AE%B3%EF%BC%88%E3%83%A0%E3%83%BC%E3%83%96%E3%83%A1%E3%83%B3%E3%83%88%E3%83%BB%E3%83%87%E3%82%A3%E3%82%B9%E3%82%AA%E3%83%BC%E3%83%80%E3%83%BC%EF%BC%89\"><\/span><strong>3. \u904b\u52d5\u969c\u5bb3\uff08\u30e0\u30fc\u30d6\u30e1\u30f3\u30c8\u30fb\u30c7\u30a3\u30b9\u30aa\u30fc\u30c0\u30fc\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DEE13\u306e\u60a3\u8005\u3055\u3093\u306b\u306f\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u306f\u7570\u306a\u308b\u3001\u81ea\u5206\u306e\u610f\u601d\u3068\u306f\u95a2\u4fc2\u306a\u304f\u4f53\u304c\u52d5\u3044\u3066\u3057\u307e\u3046\u904b\u52d5\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b8\u30b9\u30c8\u30cb\u30a2<\/p>\n\n\n\n<p>\u7b4b\u8089\u304c\u52dd\u624b\u306b\u53ce\u7e2e\u3057\u3066\u3001\u4f53\u304c\u306d\u3058\u308c\u305f\u308a\u3001\u624b\u8db3\u304c\u7a81\u3063\u5f35\u3063\u305f\u308a\u3059\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30b3\u30ec\u30a2\uff08\u821e\u8e0f\u904b\u52d5\uff09<\/p>\n\n\n\n<p>\u624b\u8db3\u304c\u8e0a\u308b\u3088\u3046\u306b\u304f\u306d\u304f\u306d\u3068\u52d5\u304f\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u52d5\u304d\u306f\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u9593\u9055\u308f\u308c\u3084\u3059\u3044\u3067\u3059\u304c\u3001\u8133\u6ce2\u691c\u67fb\u3067\u3066\u3093\u304b\u3093\u6ce2\u304c\u51fa\u3066\u3044\u306a\u3044\u3053\u3068\u3067\u533a\u5225\u3055\u308c\u307e\u3059\u3002\u7279\u306b\u3001\u8208\u596e\u3057\u305f\u6642\u3084\u52d5\u3053\u3046\u3068\u3057\u305f\u6642\u306b\u5f37\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E8%BA%AB%E4%BD%93%E7%97%87%E7%8A%B6\"><\/span><strong>4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8996\u899a\u7684\u306a\u554f\u984c<\/p>\n\n\n\n<p>\u76ee\u305d\u306e\u3082\u306e\u306e\u69cb\u9020\u306b\u306f\u554f\u984c\u304c\u306a\u304f\u3066\u3082\u3001\u8133\u304c\u6620\u50cf\u3092\u51e6\u7406\u3059\u308b\u3053\u3068\u304c\u82e6\u624b\u306a\u305f\u3081\u306b\u3001\u304a\u3082\u3061\u3083\u3092\u76ee\u3067\u8ffd\u308f\u306a\u304b\u3063\u305f\u308a\u3001\u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u304b\u3063\u305f\u308a\u3059\u308b\u76ae\u8cea\u8996\u899a\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u81ea\u5f8b\u795e\u7d4c\u75c7\u72b6<\/p>\n\n\n\n<p>\u767a\u4f5c\u306b\u4f34\u3063\u3066\u3001\u3042\u308b\u3044\u306f\u767a\u4f5c\u3068\u306f\u7121\u95a2\u4fc2\u306b\u3001\u547c\u5438\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u3063\u305f\u308a\u3001\u5fc3\u62cd\u6570\u304c\u5909\u5316\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u54fa\u4e73\u969c\u5bb3\u3068\u6442\u98df\u969c\u5bb3<\/p>\n\n\n\n<p>\u304a\u3063\u3071\u3044\u3084\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u3044\u54fa\u4e73\u969c\u5bb3\u3084\u3001\u98df\u3079\u7269\u3092\u98f2\u307f\u8fbc\u3080\u306e\u304c\u82e6\u624b\u306a\u56a5\u4e0b\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33549623_s.webp\" alt=\"\" class=\"wp-image-123215\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span><strong>\u539f\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u306a\u305c\u3001\u3066\u3093\u304b\u3093\u304c\u8d77\u304d\u305f\u308a\u3001\u767a\u9054\u304c\u9045\u308c\u305f\u308a\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u305d\u306e\u539f\u56e0\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306b\u3042\u308b\u96fb\u6c17\u4fe1\u53f7\u306e\u30b9\u30a4\u30c3\u30c1\u306e\u5f79\u5272\u3092\u3059\u308b\u30c8\u30f3\u30cd\u30eb\u306e\u4e0d\u5177\u5408\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"SCN8A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>SCN8A\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DEE13\u306e\u539f\u56e0\u306f\u3001\u7b2c12\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bSCN8A\uff08\u30a8\u30b9\u30fb\u30b7\u30fc\u30fb\u30a8\u30cc\u30fb\u30a8\u30a4\u30c8\u30fb\u30a8\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u96fb\u4f4d\u4f9d\u5b58\u6027\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff08Nav1.6\u30c1\u30e3\u30cd\u30eb\uff09\u3068\u3044\u3046\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u8868\u9762\u306b\u3042\u308b\u5c0f\u3055\u306a\u7a74\uff08\u901a\u308a\u9053\uff09\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306f\u3001\u96fb\u6c17\u4fe1\u53f7\u3092\u4f7f\u3063\u3066\u60c5\u5831\u3092\u3084\u308a\u53d6\u308a\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u96fb\u6c17\u4fe1\u53f7\u3092\u767a\u751f\u3055\u305b\u308b\u305f\u3081\u306b\u3001\u7d30\u80de\u306e\u5916\u304b\u3089\u4e2d\u306b\u30ca\u30c8\u30ea\u30a6\u30e0\u30a4\u30aa\u30f3\u3092\u53d6\u308a\u8fbc\u3080\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002SCN8A\u907a\u4f1d\u5b50\u304c\u4f5c\u308b\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306f\u3001\u3053\u306e\u30ca\u30c8\u30ea\u30a6\u30e0\u30a4\u30aa\u30f3\u3092\u901a\u3059\u305f\u3081\u306e\u4e3b\u8981\u306a\u30c8\u30f3\u30cd\u30eb\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u4e2d\u3067\u3082\u3001\u8208\u596e\u6027\u306e\u4fe1\u53f7\u3092\u9001\u308b\u795e\u7d4c\u7d30\u80de\u306b\u304a\u3044\u3066\u3001\u96fb\u6c17\u4fe1\u53f7\u3092\u767a\u751f\u3055\u305b\u305f\u308a\u5e83\u3052\u305f\u308a\u3059\u308b\u305f\u3081\u306b\u975e\u5e38\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E5%8C%96%E3%81%AB%E3%82%88%E3%82%8B%E5%BD%B1%E9%9F%BF\"><\/span><strong>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u5f71\u97ff<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SCN8A\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u304d\u308b\u3068\u3001\u3053\u306e\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u50cd\u304d\u304c\u304a\u304b\u3057\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>DEE13\u3067\u6700\u3082\u591a\u304f\u898b\u3089\u308c\u308b\u306e\u306f\u3001\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\u3068\u547c\u3070\u308c\u308b\u5909\u5316\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u30c1\u30e3\u30cd\u30eb\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u9006\u306b\u50cd\u304d\u3059\u304e\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u30a4\u30aa\u30f3\u3092\u901a\u3059\u30c8\u30f3\u30cd\u30eb\u306e\u6249\u304c\u958b\u304d\u3084\u3059\u304f\u306a\u308a\u3059\u304e\u305f\u308a\u3001\u4e00\u5ea6\u958b\u304f\u3068\u9589\u3058\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ca\u30c8\u30ea\u30a6\u30e0\u306f\u7d30\u80de\u3092\u8208\u596e\u3055\u305b\u308b\u30a2\u30af\u30bb\u30eb\u306e\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u30c8\u30f3\u30cd\u30eb\u304c\u958b\u304d\u3063\u3071\u306a\u3057\u306b\u306a\u308b\u3068\u3044\u3046\u3053\u3068\u306f\u3001\u30a2\u30af\u30bb\u30eb\u304c\u8e0f\u307f\u3063\u3071\u306a\u3057\u306e\u72b6\u614b\u306b\u306a\u308b\u3088\u3046\u306a\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u795e\u7d4c\u7d30\u80de\u304c\u7570\u5e38\u306b\u8208\u596e\u3057\u3084\u3059\u3044\u72b6\u614b\u304c\u7d9a\u304d\u3001\u6fc0\u3057\u3044\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u795e\u7d4c\u7d30\u80de\u304c\u5e38\u306b\u8208\u596e\u72b6\u614b\u306b\u3042\u308b\u3068\u3001\u6b63\u5e38\u306a\u795e\u7d4c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306e\u5f62\u6210\u304c\u59a8\u3052\u3089\u308c\u3001\u8133\u306e\u767a\u9054\u305d\u306e\u3082\u306e\u306b\u3082\u9045\u308c\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u907a\u4f1d\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u306e\u304b\u3001\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u306b\u554f\u984c\u304c\u3042\u3063\u305f\u306e\u304b\u3068\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u91cd\u75c7\u578b\u3067\u3042\u308bDEE13\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5168\u304f\u7570\u5e38\u304c\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u3057\u305f\u76f4\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136\u306bSCN8A\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u306e\u305b\u3044\u3067\u907a\u4f1d\u3057\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u598a\u5a20\u4e2d\u306e\u304a\u6bcd\u3055\u3093\u306e\u98df\u4e8b\u3001\u304a\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u74b0\u5883\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u304d\u308b\u3082\u306e\u3067\u3082\u6c7a\u3057\u3066\u3042\u308a\u307e\u305b\u3093\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u751f\u547d\u306e\u8a95\u751f\u306b\u304a\u3051\u308b\u5076\u7136\u306e\u73fe\u8c61\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u306e\u89b3\u5bdf\u3001\u8133\u6ce2\u691c\u67fb\u3001\u753b\u50cf\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span><strong>1. \u8133\u6ce2\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u8a3a\u65ad\u3084\u3001\u8133\u306e\u6d3b\u52d5\u72b6\u614b\u3092\u8abf\u3079\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>DEE13\u306e\u304a\u5b50\u3055\u3093\u306e\u8133\u6ce2\u3067\u306f\u3001\u3066\u3093\u304b\u3093\u6027\u306e\u7a81\u767a\u6ce2\uff08\u30b9\u30d1\u30a4\u30af\uff09\u304c\u898b\u3089\u308c\u308b\u307b\u304b\u3001\u80cc\u666f\u6d3b\u52d5\uff08\u767a\u4f5c\u304c\u306a\u3044\u6642\u306e\u8133\u6ce2\uff09\u304c\u5168\u4f53\u7684\u306b\u3086\u3063\u304f\u308a\u306b\u306a\u3063\u3066\u3044\u308b\u5f90\u6ce2\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u3092\u7279\u5b9a\u3057\u3001\u85ac\u306e\u52b9\u679c\u3092\u5224\u5b9a\u3059\u308b\u305f\u3081\u306b\u3082\u5b9a\u671f\u7684\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\"><\/span><strong>2. \u753b\u50cf\u691c\u67fb\uff08MRI\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u306e\u5f62\u3084\u69cb\u9020\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u305f\u3081\u306bMRI\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u75c7\u521d\u671f\u306b\u306f\u3001\u8133\u306e\u5f62\u306b\u660e\u3089\u304b\u306a\u7570\u5e38\u306f\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u767a\u4f5c\u304c\u9577\u304f\u7d9a\u3044\u305f\u5f8c\u3084\u3001\u5e74\u9f62\u304c\u9032\u3093\u3067\u304f\u308b\u3068\u3001\u5927\u8133\u3084\u5c0f\u8133\u304c\u840e\u7e2e\u3057\u3066\u5c0f\u3055\u304f\u306a\u3063\u3066\u3044\u308b\u69d8\u5b50\u3084\u3001\u8133\u6881\uff08\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u90e8\u5206\uff09\u304c\u8584\u304f\u306a\u3063\u3066\u3044\u308b\u69d8\u5b50\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u3001\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3066DNA\u3092\u8abf\u3079\u308b\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u6025\u901f\u306b\u666e\u53ca\u3057\u3066\u304d\u305f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3068\u3044\u3046\u6280\u8853\u3092\u7528\u3044\u305f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3084\u3001\u3066\u3093\u304b\u3093\u95a2\u9023\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u91cd\u8981\u306a\u90e8\u5206\u3092\u7db2\u7f85\u7684\u306b\u3059\u3079\u3066\u89e3\u8aad\u3059\u308b\u691c\u67fb\u3067\u3059\u3002DEE13\u306f\u75c7\u72b6\u3060\u3051\u3067\u306f\u4ed6\u306e\u767a\u9054\u969c\u5bb3\u3084\u3066\u3093\u304b\u3093\u75c7\u5019\u7fa4\u3068\u533a\u5225\u304c\u3064\u304b\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u3053\u306e\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3063\u3066\u521d\u3081\u3066SCN8A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u898b\u3064\u304b\u308a\u3001\u8a3a\u65ad\u306b\u81f3\u308b\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3057\u3066\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304cSCN8A\u3067\u3042\u308b\u3068\u5206\u304b\u3063\u305f\u3053\u3068\u3067\u3001\u3088\u308a\u52b9\u679c\u7684\u306a\u304a\u85ac\u3092\u9078\u629e\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u6cbb\u7642\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3068\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u82e6\u75db\u3092\u548c\u3089\u3052\u3001\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E6%B2%BB%E7%99%82%EF%BC%88%E8%96%AC%E9%81%B8%E3%81%B3%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7%EF%BC%89\"><\/span><strong>1. \u3066\u3093\u304b\u3093\u306e\u6cbb\u7642\uff08\u85ac\u9078\u3073\u306e\u91cd\u8981\u6027\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u6e1b\u3089\u3059\u305f\u3081\u306b\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u975e\u5e38\u306b\u91cd\u8981\u306a\u306e\u304c\u3001DEE13\uff08SCN8A\u5909\u7570\uff09\u306b\u306f\u76f8\u6027\u306e\u826f\u3044\u85ac\u3068\u3001\u305d\u3046\u3067\u306a\u3044\u85ac\u304c\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u906e\u65ad\u85ac\u306e\u52b9\u679c<\/p>\n\n\n\n<p>DEE13\u306e\u591a\u304f\u306e\u539f\u56e0\u3067\u3042\u308b\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08\u30a2\u30af\u30bb\u30eb\u8e0f\u307f\u3063\u3071\u306a\u3057\u72b6\u614b\uff09\u306b\u5bfe\u3057\u3066\u306f\u3001\u305d\u306e\u30a2\u30af\u30bb\u30eb\u3092\u7de9\u3081\u308b\u4f5c\u7528\u306e\u3042\u308b\u85ac\u3001\u3064\u307e\u308a\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u906e\u65ad\u85ac\u304c\u52b9\u679c\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5177\u4f53\u7684\u306b\u306f\u3001\u30d5\u30a7\u30cb\u30c8\u30a4\u30f3\u3001\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\u3001\u30aa\u30af\u30b9\u30ab\u30eb\u30d0\u30bc\u30d4\u30f3\u306a\u3069\u306e\u85ac\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u85ac\u3092\u9ad8\u7528\u91cf\u3067\u4f7f\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u4f5c\u304c\u5287\u7684\u306b\u6e1b\u5c11\u3057\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u591a\u6570\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u540c\u3058SCN\u907a\u4f1d\u5b50\u306e\u75c5\u6c17\u3067\u3082\u3001\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\uff08SCN1A\u5909\u7570\uff09\u3067\u306f\u3053\u308c\u3089\u306e\u85ac\u304c\u60aa\u5316\u3055\u305b\u308b\u8981\u56e0\u306b\u306a\u308b\u306e\u3068\u306f\u5bfe\u7167\u7684\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u3044\u304b\u306b\u91cd\u8981\u304b\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ed6\u306e\u304a\u85ac<\/p>\n\n\n\n<p>\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u3001\u30af\u30ed\u30d0\u30b6\u30e0\u3001\u30c8\u30d4\u30e9\u30de\u30fc\u30c8\u306a\u3069\u3082\u4f75\u7528\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u96e3\u6cbb\u6027\u306e\u5834\u5408\u306f\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\uff08\u8102\u80aa\u5206\u3092\u591a\u304f\u3001\u7cd6\u8cea\u3092\u6975\u7aef\u306b\u5c11\u306a\u304f\u3057\u305f\u98df\u4e8b\u7642\u6cd5\uff09\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6ce8\u610f\u70b9<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u5168\u3066\u306eSCN8A\u5909\u7570\u304c\u6a5f\u80fd\u7372\u5f97\u578b\u3067\u3042\u308b\u3068\u306f\u9650\u3089\u305a\u3001\u4e00\u90e8\u306b\u306f\u6a5f\u80fd\u55aa\u5931\u578b\uff08\u30c1\u30e3\u30cd\u30eb\u304c\u50cd\u304b\u306a\u3044\u30bf\u30a4\u30d7\uff09\u3082\u5b58\u5728\u3057\u307e\u3059\u3002\u305d\u306e\u5834\u5408\u306f\u6cbb\u7642\u65b9\u91dd\u304c\u7570\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u533b\u306f\u304a\u5b50\u3055\u3093\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306e\u8a73\u7d30\u3084\u75c7\u72b6\u306e\u53cd\u5fdc\u3092\u614e\u91cd\u306b\u898b\u6975\u3081\u306a\u304c\u3089\u85ac\u3092\u9078\u3093\u3067\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E7%99%82%E8%82%B2%EF%BC%88%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span><strong>2. \u767a\u9054\u652f\u63f4\u3068\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3068\u751f\u6d3b\u306e\u5b89\u5b9a\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<\/p>\n\n\n\n<p>\u4f53\u306e\u67d4\u3089\u304b\u3055\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u3084\u3001\u7b4b\u8089\u306e\u7a81\u3063\u5f35\u308a\uff08\u75d9\u7e2e\uff09\u3001\u4e0d\u968f\u610f\u904b\u52d5\u306b\u5bfe\u3057\u3066\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u95a2\u7bc0\u304c\u786c\u304f\u306a\u3089\u306a\u3044\u3088\u3046\u306a\u30de\u30c3\u30b5\u30fc\u30b8\u3084\u30b9\u30c8\u30ec\u30c3\u30c1\u3092\u884c\u3063\u305f\u308a\u3001\u697d\u306a\u59ff\u52e2\u304c\u53d6\u308c\u308b\u3088\u3046\u306b\u30af\u30c3\u30b7\u30e7\u30f3\u3092\u8abf\u6574\u3057\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\uff08\u5ea7\u308b\u305f\u3081\u306e\u6905\u5b50\uff09\u3084\u8eca\u6905\u5b50\u3001\u30d0\u30ae\u30fc\u3001\u8db3\u5e95\u677f\uff08\u30a4\u30f3\u30bd\u30fc\u30eb\uff09\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u4f53\u306b\u5408\u3063\u305f\u798f\u7949\u7528\u5177\u3092\u4f5c\u308b\u969b\u306b\u3082\u5c02\u9580\u7684\u306a\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u53d7\u3051\u307e\u3059\u3002\u9069\u5207\u306a\u59ff\u52e2\u3092\u4fdd\u3064\u3053\u3068\u306f\u3001\u547c\u5438\u3084\u98df\u4e8b\u3092\u30b9\u30e0\u30fc\u30ba\u306b\u3059\u308b\u305f\u3081\u306b\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09<\/p>\n\n\n\n<p>\u624b\u5148\u306e\u611f\u899a\u3092\u990a\u3063\u305f\u308a\u3001\u5149\u3084\u97f3\u306a\u3069\u306e\u523a\u6fc0\u3092\u4f7f\u3063\u305f\u904a\u3073\u3092\u901a\u3058\u3066\u5916\u754c\u3078\u306e\u8208\u5473\u3092\u5f15\u304d\u51fa\u3057\u305f\u308a\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u5165\u6d74\u3084\u7740\u66ff\u3048\u306e\u4ecb\u52a9\u65b9\u6cd5\u306a\u3069\u3001\u65e5\u5e38\u751f\u6d3b\u3092\u30b9\u30e0\u30fc\u30ba\u306b\u3059\u308b\u305f\u3081\u306e\u5de5\u592b\u3092\u5b66\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u7406\u89e3\u3092\u4fc3\u3059\u3060\u3051\u3067\u306a\u304f\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u65b9\u6cd5\uff08\u30b9\u30a4\u30c3\u30c1\u3084\u304a\u3082\u3061\u3083\u3001\u7d75\u30ab\u30fc\u30c9\u306a\u3069\uff09\u3092\u63a2\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u98df\u3079\u308b\u6a5f\u80fd\uff08\u6442\u98df\u56a5\u4e0b\uff09\u306e\u8a13\u7df4\u3082\u884c\u3044\u307e\u3059\u3002\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u98df\u4e8b\u306e\u5f62\u614b\uff08\u3068\u308d\u307f\u306e\u8abf\u6574\u306a\u3069\uff09\u3084\u4ecb\u52a9\u306e\u59ff\u52e2\u306b\u3064\u3044\u3066\u6307\u5c0e\u3092\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>3. \u65e5\u5e38\u751f\u6d3b\u306e\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6442\u98df\u30fb\u56a5\u4e0b\u7ba1\u7406<\/p>\n\n\n\n<p>\u98f2\u307f\u8fbc\u3080\u529b\u304c\u5f31\u304f\u3001\u53e3\u304b\u3089\u5341\u5206\u306b\u6804\u990a\u304c\u6442\u308c\u306a\u3044\u5834\u5408\u306f\u3001\u9f3b\u304b\u3089\u30c1\u30e5\u30fc\u30d6\u3092\u5165\u308c\u305f\u308a\u3001\u304a\u8179\u306b\u5c0f\u3055\u306a\u7a74\u3092\u958b\u3051\u3066\u76f4\u63a5\u80c3\u306b\u6804\u990a\u3092\u5165\u308c\u308b\u80c3\u308d\u3046\u3092\u4f5c\u3063\u305f\u308a\u3057\u3066\u3001\u5341\u5206\u306a\u6804\u990a\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u80c3\u308d\u3046\u306f\u3001\u8aa4\u56a5\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u3089\u3057\u3001\u304a\u5b50\u3055\u3093\u3068\u3054\u5bb6\u65cf\u306e\u98df\u4e8b\u6642\u9593\u306e\u30b9\u30c8\u30ec\u30b9\u3092\u8efd\u6e1b\u3059\u308b\u305f\u3081\u306e\u6709\u52b9\u306a\u624b\u6bb5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u547c\u5438\u7ba1\u7406<\/p>\n\n\n\n<p>\u547c\u5438\u304c\u5f31\u3044\u5834\u5408\u3084\u3001\u75f0\u304c\u51fa\u3057\u306b\u304f\u3044\u5834\u5408\u306f\u3001\u5438\u5f15\u5668\u3092\u4f7f\u7528\u3057\u305f\u308a\u3001\u5438\u5165\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u591c\u9593\u306e\u547c\u5438\u72b6\u614b\u3092\u898b\u5b88\u308b\u305f\u3081\u306b\u30e2\u30cb\u30bf\u30fc\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u611f\u67d3\u75c7\u5bfe\u7b56<\/p>\n\n\n\n<p>\u7b4b\u7dca\u5f35\u304c\u5f31\u304f\u3001\u547c\u5438\u306e\u529b\u304c\u5f31\u3044\u304a\u5b50\u3055\u3093\u306f\u3001\u98a8\u90aa\u3092\u3053\u3058\u3089\u305b\u3066\u80ba\u708e\u306b\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u6d17\u3044\u306a\u3069\u306e\u57fa\u672c\u7684\u306a\u611f\u67d3\u5bfe\u7b56\u306b\u52a0\u3048\u3001\u6d41\u884c\u671f\u306b\u306f\u4eba\u6df7\u307f\u3092\u907f\u3051\u308b\u3001\u30a4\u30f3\u30d5\u30eb\u30a8\u30f3\u30b6\u306a\u3069\u306e\u4e88\u9632\u63a5\u7a2e\u3092\u8a08\u753b\u7684\u306b\u53d7\u3051\u308b\u306a\u3069\u306e\u5bfe\u7b56\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c713\u578b\uff08DEE13\uff09\u306b\u3064\u3044\u3066\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u6c17\u306e\u672c\u8cea<\/p>\n\n\n\n<p>SCN8A\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff08\u4e3b\u306b\u6a5f\u80fd\u7372\u5f97\u578b\uff09\u306b\u3088\u308a\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u3092\u8208\u596e\u3055\u305b\u308b\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u304c\u50cd\u304d\u3059\u304e\u3001\u6fc0\u3057\u3044\u3066\u3093\u304b\u3093\u767a\u4f5c\u3084\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u51fa\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4<\/p>\n\n\n\n<p>\u4e73\u5150\u671f\u65e9\u671f\u306b\u59cb\u307e\u308b\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\uff08\u5f37\u76f4\u767a\u4f5c\u306a\u3069\uff09\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u306a\u3069\u306e\u904b\u52d5\u969c\u5bb3\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u5e0c\u671b<\/p>\n\n\n\n<p>\u539f\u56e0\u304c\u7279\u5b9a\u3055\u308c\u305f\u3053\u3068\u3067\u3001\u30d5\u30a7\u30cb\u30c8\u30a4\u30f3\u3084\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\u306a\u3069\u306e\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u906e\u65ad\u85ac\u304c\u52b9\u679c\u7684\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0<\/p>\n\n\n\n<p>\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u89aa\u306e\u305b\u3044\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u30b1\u30a2\u306e\u8981\u70b9<\/p>\n\n\n\n<p>\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306b\u52a0\u3048\u3001\u30ea\u30cf\u30d3\u30ea\u3001\u6804\u990a\u7ba1\u7406\u3001\u547c\u5438\u7ba1\u7406\u306a\u3069\u3001\u5168\u8eab\u3092\u30c8\u30fc\u30bf\u30eb\u3067\u30b1\u30a2\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":151,"featured_media":123081,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-123208","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123208","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/151"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=123208"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123208\/revisions"}],"predecessor-version":[{"id":126241,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123208\/revisions\/126241"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/123081"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=123208"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=123208"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=123208"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}