{"id":123221,"date":"2026-01-16T11:41:42","date_gmt":"2026-01-16T02:41:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123221"},"modified":"2026-07-29T05:19:56","modified_gmt":"2026-07-28T20:19:56","slug":"developmental-epileptic-encephalopathy-14-kcnt1-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/","title":{"rendered":"\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c714\u578b\u3068\u306f\uff5cKCNT1\u907a\u4f1d\u5b50\u3068\u7126\u70b9\u767a\u4f5c"},"content":{"rendered":"\n<p><strong>\u300cDevelopmental and epileptic encephalopathy 14\u300d\u3068\u3044\u3046\u9577\u3044\u8a3a\u65ad\u540d\u3002\u3042\u308b\u3044\u306f\u300cKCNT1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u300d\u3068\u3044\u3046\u8aac\u660e\u3092\u533b\u5e2b\u304b\u3089\u53d7\u3051\u3001\u6238\u60d1\u3044\u306e\u306a\u304b\u3067\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u3054\u5bb6\u65cf\u306e\u65b9\u3078\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u767a\u9054\u6027\u30fb\u3066\u3093\u304b\u3093\u6027\u8133\u75c714\u578b\uff08DEE14\uff09\u306f\u3001KCNT1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8133\u306e\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u304c\u50cd\u304d\u3059\u304e\u3066\u3057\u307e\u3046\u75be\u60a3\u3067\u3059\u3002<\/strong>\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u306e\u96e3\u6cbb\u3066\u3093\u304b\u3093\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u751f\u3058\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3002\u540c\u3058KCNT1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3082\u3001\u75c5\u578b\u306f\u4e00\u3064\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u751f\u5f8c\u307e\u3082\u306a\u304f\u767a\u75c7\u3059\u308b\u6700\u91cd\u75c7\u578b\uff08EIMFS\uff09\u3068\u3001\u601d\u6625\u671f\u4ee5\u964d\u306b\u767a\u75c7\u3059\u308b\u6bd4\u8f03\u7684\u8efd\u75c7\u306a\u591c\u9593\u3066\u3093\u304b\u3093\uff08ADNFLE\uff09\u3068\u3044\u3046\u3001\u5927\u304d\u304f\u7570\u306a\u308b\u4e8c\u3064\u306e\u75c5\u578b\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304b\u3089\u3001\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3001\u8a3a\u65ad\u306e\u6d41\u308c\u3001\u30ad\u30cb\u30b8\u30f3\u3092\u7528\u3044\u305f\u7cbe\u5bc6\u533b\u7642\u3001\u305d\u3057\u3066NIPT\u3068\u306e\u95a2\u4fc2\u307e\u3067\u3092\u6574\u7406\u3057\u307e\u3057\u305f\u3002\u540c\u3058DEE\u30b7\u30ea\u30fc\u30ba\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044\u3082\u542b\u3081\u3001\u4e00\u3064\u305a\u3064\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews\u3001MedlinePlus Genetics\u3001\u67fb\u8aad\u6e08\u307f\u533b\u5b66\u8ad6\u6587\u306a\u3069\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u3044\u307e\u3059\u3002\u60c5\u5831\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u6b63\u78ba\u306a\u4e00\u6b21\u60c5\u5831\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>DEE14\u304c\u3069\u306e\u3088\u3046\u306a\u4ed5\u7d44\u307f\u3067\u767a\u75c7\u3059\u308b\u75c5\u6c17\u306a\u306e\u304b\uff08KCNT1\u907a\u4f1d\u5b50\u3068\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff09<\/li>\n<li>\u6700\u91cd\u75c7\u306e\u4e73\u5150\u904a\u8d70\u6027\u7126\u70b9\u767a\u4f5c(EIMFS)\u3068\u3001\u8efd\u75c7\u578bADNFLE\u3068\u3044\u3046\u4e8c\u3064\u306e\u75c5\u578b\u306e\u9055\u3044<\/li>\n<li>\u8133\u6ce2\u691c\u67fb\u30fbMRI\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u8a3a\u65ad\u306e\u6d41\u308c<\/li>\n<li>\u30ad\u30cb\u30b8\u30f3\u3092\u7528\u3044\u305f\u7cbe\u5bc6\u533b\u7642\uff08\u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3\uff09\u306e\u73fe\u72b6\u3068\u9650\u754c<\/li>\n<li>NIPT\u3067DEE14\u304c\u5206\u304b\u308b\u30b1\u30fc\u30b9\u3068\u5206\u304b\u3089\u306a\u3044\u30b1\u30fc\u30b9<\/li>\n<li>\u8a3a\u65ad\u5f8c\u306b\u76f8\u8ac7\u3067\u304d\u308b\u533b\u7642\u8cbb\u52a9\u6210\u3084\u7642\u80b2\u306e\u7a93\u53e3<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u307e\u305a\u3001\u3053\u306e\u75c5\u6c17\u306e\u8981\u70b9\u30921\u679a\u306e\u8868\u306b\u307e\u3068\u3081\u307e\u3057\u305f\u3002\u5168\u4f53\u50cf\u3092\u3064\u304b\u3093\u3067\u304b\u3089\u3001\u8a73\u3057\u3044\u8aac\u660e\u306b\u9032\u3093\u3067\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u9805\u76ee<\/th><th>\u5185\u5bb9<\/th><\/tr><\/thead><tbody><tr><td>\u539f\u56e0<\/td><td>9\u756a\u67d3\u8272\u4f53\u306eKCNT1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3002\u591a\u304f\u306f\u6a5f\u80fd\u7372\u5f97\u578b\u3067\u3001\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u304c\u50cd\u304d\u3059\u304e\u308b\u72b6\u614b\u306b\u306a\u308b<\/td><\/tr><tr><td>\u907a\u4f1d\u5f62\u5f0f<\/td><td>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u3002\u305f\u3060\u3057\u307b\u3068\u3093\u3069\u304c\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/td><\/tr><tr><td>\u4ee3\u8868\u7684\u306a\u75c5\u578b<\/td><td>\u4e73\u5150\u904a\u8d70\u6027\u7126\u70b9\u767a\u4f5c(EIMFS\u30fb\u65e7\u79f0MMPSI)\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\u591c\u9593\u524d\u982d\u8449\u3066\u3093\u304b\u3093(ADNFLE)<\/td><\/tr><tr><td>\u767a\u75c7\u6642\u671f<\/td><td>EIMFS\u578b\u306f\u751f\u5f8c6\u304b\u6708\u4ee5\u5185\u304c\u591a\u3044\u3002ADNFLE\u578b\u306f\u601d\u6625\u671f\u4ee5\u964d\u304c\u4e2d\u5fc3<\/td><\/tr><tr><td>\u78ba\u5b9a\u8a3a\u65ad<\/td><td>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u3001\u307e\u305f\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09<\/td><\/tr><tr><td>NIPT\u3068\u306e\u95a2\u4fc2<\/td><td>\u57fa\u672cNIPT\u306e\u5bfe\u8c61\u5916\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u305f\u3081\u901a\u5e38\u306ecfDNA\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u3044<\/td><\/tr><tr><td>\u6cbb\u7642<\/td><td>\u30ad\u30cb\u30b8\u30f3\u306b\u3088\u308b\u7cbe\u5bc6\u533b\u7642\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#1_DEE14%EF%BC%88KCNT1%E9%96%A2%E9%80%A3%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%EF%BC%89%E3%81%A8%E3%81%AF%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >1. DEE14\uff08KCNT1\u95a2\u9023\u3066\u3093\u304b\u3093\uff09\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E4%B9%B3%E5%85%90%E9%81%8A%E8%B5%B0%E6%80%A7%E7%84%A6%E7%82%B9%E7%99%BA%E4%BD%9C%EF%BC%88EIMFS%EF%BC%89%E3%82%92%E4%B8%AD%E5%BF%83%E3%81%AB\" >2. \u4e3b\u306a\u75c7\u72b6\uff1a\u4e73\u5150\u904a\u8d70\u6027\u7126\u70b9\u767a\u4f5c\uff08EIMFS\uff09\u3092\u4e2d\u5fc3\u306b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E4%B9%B3%E5%85%90%E9%81%8A%E8%B5%B0%E6%80%A7%E7%84%A6%E7%82%B9%E7%99%BA%E4%BD%9C%EF%BC%88EIMFS%EF%BC%89\" >\u4e73\u5150\u904a\u8d70\u6027\u7126\u70b9\u767a\u4f5c\uff08EIMFS\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E7%99%BA%E9%81%94%E3%81%A8%E7%A5%9E%E7%B5%8C%E3%81%AE%E7%97%87%E7%8A%B6\" >\u767a\u9054\u3068\u795e\u7d4c\u306e\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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#3_KCNT1%E3%81%AE%E4%BA%8C%E3%81%A4%E3%81%AE%E9%A1%94%EF%BC%9AEIMFS%E3%81%A8ADNFLE%E3%81%A8%E3%81%84%E3%81%86%E8%A1%A8%E7%8F%BE%E5%9E%8B%E3%81%AE%E5%B9%85\" >3. KCNT1\u306e\u4e8c\u3064\u306e\u9854\uff1aEIMFS\u3068ADNFLE\u3068\u3044\u3046\u8868\u73fe\u578b\u306e\u5e45<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#4_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%82%AB%E3%83%AA%E3%82%A6%E3%83%A0%E3%83%81%E3%83%A3%E3%83%8D%E3%83%AB%E3%81%AE%E6%95%85%E9%9A%9C%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F\" >4. \u539f\u56e0\uff1a\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u6545\u969c\u3068\u907a\u4f1d\u5f62\u5f0f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#KCNT1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\" >KCNT1\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 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-14-kcnt1-guide\/#%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E5%A4%89%E7%95%B0%E3%81%A8%E3%81%84%E3%81%86%E9%80%86%E8%AA%AC\" >\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\u3068\u3044\u3046\u9006\u8aac<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u907a\u4f1d\u5f62\u5f0f\u306b\u3064\u3044\u3066<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%E3%81%AE%E6%B5%81%E3%82%8C\" >5. \u8a3a\u65ad\u3068\u691c\u67fb\u306e\u6d41\u308c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\" >\u8133\u6ce2\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\" >\u753b\u50cf\u691c\u67fb\uff08MRI\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#6_%E6%B2%BB%E7%99%82%E3%81%A8%E3%83%97%E3%83%AC%E3%82%B7%E3%82%B8%E3%83%A7%E3%83%B3%E3%83%BB%E3%83%A1%E3%83%87%E3%82%A3%E3%82%B7%E3%83%B3%EF%BC%9A%E3%82%AD%E3%83%8B%E3%82%B8%E3%83%B3%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91\" >6. \u6cbb\u7642\u3068\u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3\uff1a\u30ad\u30cb\u30b8\u30f3\u306e\u4f4d\u7f6e\u3065\u3051<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E6%8A%97%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E8%96%AC%E3%81%A8%E3%82%AD%E3%83%8B%E3%82%B8%E3%83%B3\" >\u6297\u3066\u3093\u304b\u3093\u85ac\u3068\u30ad\u30cb\u30b8\u30f3<\/a><\/li><li class='ez-toc-page-1 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-14-kcnt1-guide\/#%E3%82%B1%E3%83%88%E3%83%B3%E9%A3%9F%E7%99%82%E6%B3%95\" >\u30b1\u30c8\u30f3\u98df\u7642\u6cd5<\/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-14-kcnt1-guide\/#%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E7%99%82%E8%82%B2\" >\u767a\u9054\u652f\u63f4\u3068\u7642\u80b2<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#7_NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A8DEE14%E3%81%AE%E9%96%A2%E4%BF%82\" >7. NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068DEE14\u306e\u95a2\u4fc2<\/a><\/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-14-kcnt1-guide\/#8_%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6%E3%81%A8%E7%9B%B8%E8%AB%87%E7%AA%93%E5%8F%A3%EF%BC%9A%E3%81%BE%E3%81%9A%E4%BD%95%E3%81%8B%E3%82%89%E5%A7%8B%E3%82%81%E3%82%8B%E3%81%8B\" >8. \u652f\u63f4\u5236\u5ea6\u3068\u76f8\u8ac7\u7a93\u53e3\uff1a\u307e\u305a\u4f55\u304b\u3089\u59cb\u3081\u308b\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#9_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E8%A8%BA%E6%96%AD%E5%90%8D%E3%81%AE%E9%87%8D%E3%81%95%E3%81%A8%E5%90%91%E3%81%8D%E5%90%88%E3%81%86%E3%81%9F%E3%82%81%E3%81%AB\" >9. \u307e\u3068\u3081\uff1a\u8a3a\u65ad\u540d\u306e\u91cd\u3055\u3068\u5411\u304d\u5408\u3046\u305f\u3081\u306b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E7%99%BA%E9%81%94%E6%80%A7%E3%83%BB%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%8714%E5%9E%8B%EF%BC%88DEE14%EF%BC%89%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u767a\u9054\u6027\u30fb\u3066\u3093\u304b\u3093\u6027\u8133\u75c714\u578b\uff08DEE14\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#KCNT1%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%8C%E3%81%82%E3%82%8B%E3%81%A8%E3%80%81%E5%BF%85%E3%81%9AEIMFS%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E9%87%8D%E3%81%84%E7%97%87%E7%8A%B6%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >KCNT1\u306e\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u5fc5\u305aEIMFS\u306e\u3088\u3046\u306a\u91cd\u3044\u75c7\u72b6\u306b\u306a\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#DEE14%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >DEE14\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#DEE14%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >DEE14\u306f\u907a\u4f1d\u3059\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#DEE14%E3%81%AB%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >DEE14\u306b\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E7%97%87%E7%8A%B6%E3%81%AB%E6%B0%97%E3%81%A5%E3%81%84%E3%81%9F%E3%81%A8%E3%81%8D%E3%80%81%E3%81%BE%E3%81%9A%E4%BD%95%E3%82%92%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u75c7\u72b6\u306b\u6c17\u3065\u3044\u305f\u3068\u304d\u3001\u307e\u305a\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_DEE14%EF%BC%88KCNT1%E9%96%A2%E9%80%A3%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%EF%BC%89%E3%81%A8%E3%81%AF%E3%80%81%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>1. DEE14\uff08KCNT1\u95a2\u9023\u3066\u3093\u304b\u3093\uff09\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE14\u306f\u3001KCNT1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8133\u306e\u795e\u7d4c\u7d30\u80de\u304c\u8208\u596e\u3057\u3084\u3059\u304f\u306a\u308a\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u540c\u6642\u306b\u9032\u3080\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u6b63\u5f0f\u540d\u79f0\u306f\u9577\u304f\u3001\u899a\u3048\u306b\u304f\u3044\u3068\u611f\u3058\u308b\u65b9\u304c\u591a\u3044\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u767a\u9054\u6027\u300d\u3068\u306f\u3001\u751f\u307e\u308c\u6301\u3063\u305f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u304c\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u767a\u4f5c\u306e\u6709\u7121\u306b\u304b\u304b\u308f\u3089\u305a\u3001\u767a\u9054\u306b\u8ab2\u984c\u304c\u751f\u3058\u3084\u3059\u3044\u4f53\u8cea\u3060\u3068\u7406\u89e3\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u300c\u3066\u3093\u304b\u3093\u6027\u300d\u306f\u3001\u983b\u7e41\u306a\u767a\u4f5c\u3084\u8133\u6ce2\u306e\u4e71\u308c\u304c\u8133\u6a5f\u80fd\u306b\u3055\u3089\u306a\u308b\u8ca0\u62c5\u3092\u304b\u3051\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3059\u8a00\u8449\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u306e\u73fe\u5834\u3067\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3092\u53d6\u3063\u3066\u300cKCNT1\u95a2\u9023\u3066\u3093\u304b\u3093\u300d\u300cKCNT1\u95a2\u9023\u795e\u7d4c\u767a\u9054\u75c7\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u547c\u3073\u65b9\u306e\u307b\u3046\u304c\u3001\u5b9f\u969b\u306e\u75c5\u614b\u3092\u76f4\u611f\u7684\u306b\u628a\u63e1\u3057\u3084\u3059\u3044\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>KCNT1\u5909\u7570\u304c2012\u5e74\u524d\u5f8c\u306b\u76f8\u6b21\u3044\u3067\u5831\u544a\u3055\u308c\u3066\u4ee5\u964d\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u5f15\u304d\u8d77\u3053\u3059\u75c5\u6c17\u306f\u4e00\u3064\u3067\u306f\u306a\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u3082\u3063\u3068\u3082\u91cd\u3044\u306e\u306f\u300c\u4e73\u5150\u904a\u8d70\u6027\u7126\u70b9\u767a\u4f5c\uff08EIMFS\uff09\u300d\u3067\u3059\u3002\u6bd4\u8f03\u7684\u75c7\u72b6\u304c\u8efd\u3044\u300c\u5e38\u67d3\u8272\u4f53\u9855\u6027\u591c\u9593\u524d\u982d\u8449\u3066\u3093\u304b\u3093\uff08ADNFLE\uff09\u300d\u3068\u306e\u5bfe\u7167\u3002\u540c\u3058\u907a\u4f1d\u5b50\u304b\u3089\u751f\u3058\u308b\u3001\u4e8c\u3064\u306e\u8868\u73fe\u578b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u4e2d\u3067\u3001\u300c\u540c\u3058\u907a\u4f1d\u5b50\u306a\u306e\u306b\u3001\u306a\u305c\u75c7\u72b6\u306e\u91cd\u3055\u304c\u3053\u308c\u307b\u3069\u9055\u3046\u306e\u304b\u300d\u3068\u3044\u3046\u8cea\u554f\u3092\u53d7\u3051\u305f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002KCNT1\u306f\u3053\u306e\u70b9\u3067\u3001\u4ed6\u306eDEE\u95a2\u9023\u907a\u4f1d\u5b50\u3068\u306f\u4e00\u7dda\u3092\u753b\u3059\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c717\u578b\uff08Developmental and epileptic encephalopathy 17\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c717\u578b\uff08DEE17\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002GNAO1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u7279\u5fb4\u7684\u306a\u4e0d\u968f\u610f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E4%B9%B3%E5%85%90%E9%81%8A%E8%B5%B0%E6%80%A7%E7%84%A6%E7%82%B9%E7%99%BA%E4%BD%9C%EF%BC%88EIMFS%EF%BC%89%E3%82%92%E4%B8%AD%E5%BF%83%E3%81%AB\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u4e73\u5150\u904a\u8d70\u6027\u7126\u70b9\u767a\u4f5c\uff08EIMFS\uff09\u3092\u4e2d\u5fc3\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE14\u306e\u75c7\u72b6\u306f\u3001\u7279\u5fb4\u7684\u306a\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u3001\u5168\u8eab\u306b\u53ca\u3076\u8eab\u4f53\u75c7\u72b6\u306e\u4e09\u3064\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/strong>\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u91cd\u3055\u3084\u51fa\u65b9\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3092\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B9%B3%E5%85%90%E9%81%8A%E8%B5%B0%E6%80%A7%E7%84%A6%E7%82%B9%E7%99%BA%E4%BD%9C%EF%BC%88EIMFS%EF%BC%89\"><\/span>\u4e73\u5150\u904a\u8d70\u6027\u7126\u70b9\u767a\u4f5c\uff08EIMFS\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u751f\u5f8c6\u304b\u6708\u4ee5\u5185\u3001\u7279\u306b\u751f\u5f8c\u6570\u9031\u9593\u304b\u30893\u304b\u6708\u3054\u308d\u307e\u3067\u306e\u65e9\u3044\u6642\u671f\u306b\u767a\u4f5c\u304c\u59cb\u307e\u308a\u307e\u3059\u3002\u4f53\u306e\u4e00\u90e8\u304c\u30d4\u30af\u30d4\u30af\u52d5\u304f\u7126\u70b9\u767a\u4f5c\u304c\u3001\u6570\u5206\u304b\u3089\u6570\u6642\u9593\u306e\u9593\u306b\u53f3\u624b\u304b\u3089\u5de6\u8db3\u3078\u3068\u3044\u3046\u3088\u3046\u306b\u4f53\u306e\u3042\u3061\u3053\u3061\u3078\u79fb\u52d5\u3057\u3066\u3044\u304f\u73fe\u8c61\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u8133\u306e\u306a\u304b\u3067\u767a\u4f5c\u306e\u9707\u6e90\u5730\u304c\u6b21\u3005\u3068\u79fb\u52d5\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u767a\u4f5c\u306f\u975e\u5e38\u306b\u983b\u7e41\u3067\u3001\u4e00\u65e5\u306b\u4f55\u5ea6\u3082\u3001\u6642\u306b\u306f\u9014\u5207\u308c\u305a\u306b\u7d9a\u304f\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5f37\u76f4\u767a\u4f5c\u3001\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u767a\u4f5c\u3001\u3066\u3093\u304b\u3093\u6027\u30b9\u30d1\u30ba\u30e0\u306a\u3069\u3001\u8907\u6570\u306e\u30bf\u30a4\u30d7\u306e\u767a\u4f5c\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u4e00\u822c\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\u96e3\u6cbb\u6027\u306e\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\u767a\u9054\u3068\u795e\u7d4c\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\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\u3066\u3082\u3001\u767a\u4f5c\u304c\u59cb\u307e\u308b\u3068\u767a\u9054\u304c\u505c\u6ede\u3057\u3001\u3067\u304d\u3066\u3044\u305f\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\u308b\u9000\u884c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u904b\u52d5\u9762\u30fb\u7cbe\u795e\u9762\u3068\u3082\u306b\u3001\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u4e00\u822c\u7684\u306a\u76ee\u5b89\u3088\u308a\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u3001\u6700\u91cd\u5ea6\u306e<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\u3067\u306e\u4f1a\u8a71\u306f\u96e3\u3057\u3044\u3053\u3068\u304c\u591a\u3044\u4e00\u65b9\u3001\u58f0\u306e\u30c8\u30fc\u30f3\u3084\u8868\u60c5\u3067\u5feb\u30fb\u4e0d\u5feb\u3092\u4f1d\u3048\u3089\u308c\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002\u8d64\u3061\u3083\u3093\u306e\u6642\u671f\u306f\u3075\u306b\u3083\u3075\u306b\u3083\u3068\u3057\u305f\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u76ee\u7acb\u3061\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u624b\u8db3\u304c\u7a81\u3063\u5f35\u308b\u75d9\u7e2e\u306b\u8ee2\u3058\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u56f2\u306e\u5897\u3048\u65b9\u304c\u7de9\u3084\u304b\u306b\u306a\u308a\u3001\u76f8\u5bfe\u7684\u306b\u5c0f\u982d\u75c7\u304c\u898b\u3089\u308c\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u8133\u306e\u6210\u9577\u901f\u5ea6\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u306e\u8868\u308c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ed6\u3001\u4e0d\u6a5f\u5acc\u30fb\u6613\u523a\u6fc0\u6027\u3001\u54fa\u4e73\u969c\u5bb3\u3084\u56a5\u4e0b\u969c\u5bb3\u3001\u767a\u4f5c\u306b\u4f34\u3046\u81ea\u5f8b\u795e\u7d4c\u75c7\u72b6\uff08\u9854\u8272\u306e\u5909\u5316\u3084\u547c\u5438\u306e\u4e71\u308c\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u65e5\u3005\u306e\u80b2\u5150\u306e\u306a\u304b\u3067\u3001\u3053\u3046\u3057\u305f\u5909\u5316\u306b\u632f\u308a\u56de\u3055\u308c\u3066\u75b2\u5f0a\u3057\u3066\u3057\u307e\u3046\u3054\u5bb6\u65cf\u306e\u58f0\u3092\u3001\u79c1\u306f\u4f55\u5ea6\u3082\u805e\u3044\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/developmental-epileptic-encephalopathy-27-grin2b-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c727\u578b\uff08Developmental and epileptic encephalopathy 27\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c727\u578b\uff08DEE27\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002GRIN2B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u4e0d\u968f\u610f\u904b\u52d5\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_KCNT1%E3%81%AE%E4%BA%8C%E3%81%A4%E3%81%AE%E9%A1%94%EF%BC%9AEIMFS%E3%81%A8ADNFLE%E3%81%A8%E3%81%84%E3%81%86%E8%A1%A8%E7%8F%BE%E5%9E%8B%E3%81%AE%E5%B9%85\"><\/span><strong>3. KCNT1\u306e\u4e8c\u3064\u306e\u9854\uff1aEIMFS\u3068ADNFLE\u3068\u3044\u3046\u8868\u73fe\u578b\u306e\u5e45<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>KCNT1\u907a\u4f1d\u5b50\u306f\u3001\u5909\u7570\u306e\u4f4d\u7f6e\u3084\u50cd\u304d\u65b9\u306b\u3088\u3063\u3066\u3001\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u91cd\u3055\u306e\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/strong>\u3053\u308c\u306f\u3001\u4ed6\u306e\u591a\u304f\u306eDEE\u95a2\u9023\u907a\u4f1d\u5b50\u3068KCNT1\u3092\u5206\u3051\u308b\u3082\u3063\u3068\u3082\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23086396\/\" target=\"_blank\" rel=\"noopener\">Heron\u3089\u306e2012\u5e74\u306e\u5831\u544a<\/a>\u3067\u306f\u3001KCNT1\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u307e\u3057\u305f\u3002\u591c\u9593\u306e\u7761\u7720\u4e2d\u306b\u767a\u4f5c\u304c\u8d77\u3053\u308b\u300c\u5e38\u67d3\u8272\u4f53\u9855\u6027\u591c\u9593\u524d\u982d\u8449\u3066\u3093\u304b\u3093\uff08ADNFLE\uff09\u300d\u3068\u3044\u3046\u75c5\u578b\u3067\u3059\u3002ADNFLE\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u308f\u306a\u3044\u3053\u3068\u3082\u591a\u304f\u3001EIMFS\u3068\u306f\u5bfe\u7167\u7684\u306b\u7d4c\u904e\u304c\u7de9\u3084\u304b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u4e73\u5150\u671f\u65e9\u671f\u306b\u767a\u75c7\u3059\u308bEIMFS\u306f\u3001\u540c\u3058KCNT1\u306e\u5909\u7570\u3067\u3082\u6a5f\u80fd\u7372\u5f97\u306e\u7a0b\u5ea6\u304c\u3088\u308a\u5927\u304d\u3044\u50be\u5411\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/26740507\/\" target=\"_blank\" rel=\"noopener\">Lim\u3089\u306b\u3088\u308b\u8868\u73fe\u578b\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306e\u89e3\u6790<\/a>\u3067\u306f\u3001\u30c1\u30e3\u30cd\u30eb\u306e\u904e\u5270\u306a\u96fb\u6d41\u5897\u52a0\u304c\u5927\u304d\u3044\u307b\u3069\u3001\u3088\u308a\u91cd\u3044\u81e8\u5e8a\u50cf\u3068\u95a2\u9023\u3059\u308b\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31872048\/\" target=\"_blank\" rel=\"noopener\">Barcia\u3089\u306e\u7814\u7a76<\/a>\u3067\u306f\u3001EIMFS\u306b\u95a2\u9023\u3059\u308b\u5909\u7570\u304c\u30c1\u30e3\u30cd\u30eb\u306e\u7279\u5b9a\u306e\u9818\u57df\uff08RCK2\u30c9\u30e1\u30a4\u30f3\uff09\u306b\u96c6\u4e2d\u3057\u3084\u3059\u3044\u3053\u3068\u3082\u793a\u3055\u308c\u307e\u3057\u305f\u3002\u305f\u3060\u3057\u3001\u91cd\u75c7\u5ea6\u3068\u5909\u7570\u306e\u4f4d\u7f6e\u306b\u306f\u4f8b\u5916\u3082\u591a\u304f\u3001\u540c\u3058\u5909\u7570\u3067\u3082\u5bb6\u7cfb\u5185\u3067\u75c7\u72b6\u306e\u5e45\u304c\u898b\u3089\u308c\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5e45\u306e\u5e83\u3055\u306f\u3001\u8a3a\u65ad\u540d\u3060\u3051\u3067\u4eca\u5f8c\u306e\u898b\u901a\u3057\u3092\u65ad\u5b9a\u3067\u304d\u306a\u3044\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002DEE14\u3068\u544a\u3052\u3089\u308c\u3066\u3082\u3001\u767a\u75c7\u6642\u671f\u30fb\u767a\u4f5c\u578b\u30fb\u8133\u6ce2\u6240\u898b\u306b\u3088\u3063\u3066\u3001\u5b9f\u969b\u306e\u7d4c\u904e\u306f\u304a\u5b50\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u3067\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%82%AB%E3%83%AA%E3%82%A6%E3%83%A0%E3%83%81%E3%83%A3%E3%83%8D%E3%83%AB%E3%81%AE%E6%95%85%E9%9A%9C%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F\"><\/span><strong>4. \u539f\u56e0\uff1a\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u6545\u969c\u3068\u907a\u4f1d\u5f62\u5f0f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE14\u306e\u539f\u56e0\u306f\u30019\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bKCNT1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u304c\u50cd\u304d\u3059\u304e\u3066\u3057\u307e\u3046\u3053\u3068\u306b\u3042\u308a\u307e\u3059\u3002<\/strong>\u3053\u306e\u4ed5\u7d44\u307f\u3092\u7406\u89e3\u3059\u308b\u3068\u3001\u6cbb\u7642\u306e\u8003\u3048\u65b9\u3082\u898b\u3048\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"KCNT1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span>KCNT1\u907a\u4f1d\u5b50\u306e\u5f79\u5272<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>KCNT1\u907a\u4f1d\u5b50\u306f\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u6d3b\u6027\u5316\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff08\u901a\u79f0Slack\u3001KNa1.1\uff09\u3068\u3044\u3046\u3001\u795e\u7d4c\u7d30\u80de\u306e\u8868\u9762\u306b\u3042\u308b\u901a\u308a\u9053\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306f\u96fb\u6c17\u4fe1\u53f7\u3067\u60c5\u5831\u3092\u3084\u308a\u53d6\u308a\u3057\u3066\u304a\u308a\u3001\u7d30\u80de\u306e\u5185\u5916\u3092\u30ca\u30c8\u30ea\u30a6\u30e0\u3084\u30ab\u30ea\u30a6\u30e0\u304c\u51fa\u5165\u308a\u3059\u308b\u3053\u3068\u3067\u4fe1\u53f7\u3092\u4f5c\u3063\u305f\u308a\u6b62\u3081\u305f\u308a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>KCNT1\u304c\u4f5c\u308b\u30c1\u30e3\u30cd\u30eb\u306f\u3001\u795e\u7d4c\u304c\u8208\u596e\u3057\u305f\u5f8c\u306b\u30ab\u30ea\u30a6\u30e0\u3092\u7d30\u80de\u5916\u3078\u51fa\u3057\u3001\u8208\u596e\u3092\u93ae\u3081\u3066\u6b21\u306e\u4fe1\u53f7\u3078\u306e\u6e96\u5099\u3092\u6574\u3048\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3044\u308f\u3070\u3001\u795e\u7d4c\u306e\u300c\u30d6\u30ec\u30fc\u30ad\u8abf\u6574\u5f79\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E5%A4%89%E7%95%B0%E3%81%A8%E3%81%84%E3%81%86%E9%80%86%E8%AA%AC\"><\/span>\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\u3068\u3044\u3046\u9006\u8aac<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DEE14\u3067\u591a\u304f\u898b\u3089\u308c\u308b\u306e\u306f\u3001\u6a5f\u80fd\u7372\u5f97\u578b\u3068\u547c\u3070\u308c\u308b\u5909\u7570\u3067\u3059\u3002\u30c1\u30e3\u30cd\u30eb\u304c\u958b\u304d\u3063\u3071\u306a\u3057\u306b\u306a\u3063\u305f\u308a\u3001\u958b\u304d\u3084\u3059\u304f\u306a\u308a\u3059\u304e\u305f\u308a\u3059\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ab\u30ea\u30a6\u30e0\u3092\u51fa\u3059\u50cd\u304d\u304c\u5f37\u304f\u306a\u308b\u3068\u3001\u4e00\u898b\u795e\u7d4c\u306f\u9759\u304b\u306b\u306a\u308a\u305d\u3046\u306b\u601d\u3048\u307e\u3059\u3002\u3068\u3053\u308d\u304c\u5b9f\u969b\u306b\u306f\u9006\u306e\u73fe\u8c61\u304c\u8d77\u3053\u308a\u307e\u3059\u3002\u30ab\u30ea\u30a6\u30e0\u304c\u904e\u5270\u306b\u6d41\u51fa\u3059\u308b\u3053\u3068\u3067\u795e\u7d4c\u7d30\u80de\u304c\u7d20\u65e9\u304f\u30ea\u30bb\u30c3\u30c8\u3055\u308c\u3001\u6b21\u306e\u8208\u596e\u3092\u3059\u3050\u306b\u8d77\u3053\u305b\u308b\u300c\u9ad8\u983b\u5ea6\u767a\u706b\u300d\u306e\u72b6\u614b\u306b\u306a\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7d50\u679c\u3068\u3057\u3066\u795e\u7d4c\u304c\u7570\u5e38\u306b\u8208\u596e\u3057\u3084\u3059\u304f\u306a\u308a\u3001\u6fc0\u3057\u3044\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30c1\u30e3\u30cd\u30eb\u306f\u8133\u306e\u767a\u9054\u6bb5\u968e\u3067\u3082\u91cd\u8981\u306a\u50cd\u304d\u3092\u62c5\u3046\u305f\u3081\u3001\u6a5f\u80fd\u7570\u5e38\u304c\u767a\u9054\u305d\u306e\u3082\u306e\u306e\u9045\u308c\u306b\u3082\u3064\u306a\u304c\u308a\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%BD%A2%E5%BC%8F%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span>\u907a\u4f1d\u5f62\u5f0f\u306b\u3064\u3044\u3066<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>KCNT1\u95a2\u9023\u3066\u3093\u304b\u3093\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u7406\u8ad6\u4e0a\u306f1\u3064\u306e\u5909\u7570\u30a2\u30ec\u30eb\u3067\u767a\u75c7\u3057\u3046\u308b\u5f62\u5f0f\u3067\u3059\u304c\u3001\u91cd\u75c7\u578b\u3067\u3042\u308bEIMFS\u306e\u307b\u3068\u3093\u3069\u306f\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\u7570\u5e38\u304c\u306a\u304f\u3066\u3082\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3084\u53d7\u7cbe\u76f4\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067\u5076\u7136\u306b\u5909\u7570\u304c\u751f\u3058\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u306e\u305b\u3044\u3067\u907a\u4f1d\u3057\u305f\u308f\u3051\u3067\u3082\u3001\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067ADNFLE\u578b\u306f\u3001\u6bd4\u8f03\u7684\u8efd\u75c7\u3067\u3042\u308b\u304c\u3086\u3048\u306b\u5bb6\u7cfb\u5185\u3067\u8907\u6570\u306e\u4e16\u4ee3\u306b\u308f\u305f\u3063\u3066\u4f1d\u308f\u3063\u3066\u3044\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9055\u3044\u3082\u3001EIMFS\u3068ADNFLE\u3092\u5206\u3051\u308b\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c742\u578b\u3068\u306f\uff5cCACNA1A\u907a\u4f1d\u5b50\u3068\u7247\u982d\u75db\u306e\u95a2\u4fc2 <\/div>\n          <div class=\"blog-card-excerpt\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c742\u578b\uff08DEE42\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002CACNA1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u904b\u52d5\u5931\u8abf\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/1381756_s.webp\" alt=\"\u767a\u9054\u6027\u30fb\u3066\u3093\u304b\u3093\u6027\u8133\u75c714\u578b\u306e\u8aac\u660e\u3092\u53d7\u3051\u308b\u89aa\u5b50\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121658\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>5. \u8a3a\u65ad\u3068\u691c\u67fb\u306e\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE14\u306e\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u306e\u89b3\u5bdf\u3001\u8133\u6ce2\u691c\u67fb\u3001\u753b\u50cf\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/strong>\u3044\u305a\u308c\u304b\u4e00\u3064\u3060\u3051\u3067\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span>\u8133\u6ce2\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>EIMFS\u578b\u3067\u306f\u3001\u767a\u4f5c\u304c\u8d77\u304d\u3066\u3044\u308b\u5834\u6240\u304c\u53f3\u8133\u304b\u3089\u5de6\u8133\u3078\u3001\u3042\u308b\u3044\u306f\u5f8c\u65b9\u304b\u3089\u524d\u65b9\u3078\u3068\u6642\u9593\u3068\u3068\u3082\u306b\u79fb\u52d5\u3057\u3066\u3044\u304f\u69d8\u5b50\u304c\u8a18\u9332\u3055\u308c\u307e\u3059\u3002\u767a\u4f5c\u304c\u306a\u3044\u6642\u306e\u80cc\u666f\u6d3b\u52d5\u304c\u5168\u4f53\u7684\u306b\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u5f90\u6ce2\u5316\u3082\u3001\u8133\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u3092\u793a\u3059\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\"><\/span>\u753b\u50cf\u691c\u67fb\uff08MRI\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u75c7\u521d\u671f\u306b\u306f\u8133\u306e\u5f62\u306b\u660e\u3089\u304b\u306a\u7570\u5e38\u304c\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002\u767a\u4f5c\u304c\u9577\u671f\u306b\u53ca\u3076\u3068\u3001\u8133\u5168\u4f53\u306e\u840e\u7e2e\u3084\u9ac4\u9798\u5316\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\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%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3066DNA\u3092\u8abf\u3079\u308b\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3092\u7528\u3044\u305f\u3066\u3093\u304b\u3093\u95a2\u9023\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u3001\u307e\u305f\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u304c\u4e00\u822c\u7684\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u3060\u3051\u3067\u306f\u4ed6\u306e\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3068\u533a\u5225\u304c\u96e3\u3057\u304f\u3001\u3053\u306e\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u521d\u3081\u3066KCNT1\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\u8a3a\u65ad\u78ba\u5b9a\u306b\u3088\u3063\u3066\u3001\u6b21\u306b\u8aac\u660e\u3059\u308b\u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3\u306e\u9078\u629e\u80a2\u304c\u898b\u3048\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%B2%BB%E7%99%82%E3%81%A8%E3%83%97%E3%83%AC%E3%82%B7%E3%82%B8%E3%83%A7%E3%83%B3%E3%83%BB%E3%83%A1%E3%83%87%E3%82%A3%E3%82%B7%E3%83%B3%EF%BC%9A%E3%82%AD%E3%83%8B%E3%82%B8%E3%83%B3%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91\"><\/span><strong>6. \u6cbb\u7642\u3068\u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3\uff1a\u30ad\u30cb\u30b8\u30f3\u306e\u4f4d\u7f6e\u3065\u3051<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u73fe\u6642\u70b9\u3067\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3057\u3066\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u3067\u3082\u3001\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u3068\u30b5\u30dd\u30fc\u30c8\u306b\u3088\u3063\u3066\u751f\u6d3b\u306e\u8cea\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=\"%E6%8A%97%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E8%96%AC%E3%81%A8%E3%82%AD%E3%83%8B%E3%82%B8%E3%83%B3\"><\/span>\u6297\u3066\u3093\u304b\u3093\u85ac\u3068\u30ad\u30cb\u30b8\u30f3<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d5\u30a7\u30ce\u30d0\u30eb\u30d3\u30bf\u30fc\u30eb\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u306a\u3069\u4e00\u822c\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u8a66\u3055\u308c\u307e\u3059\u304c\u3001EIMFS\u578b\u306e\u767a\u4f5c\u306f\u3053\u308c\u3089\u306b\u62b5\u6297\u6027\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>KCNT1\u5909\u7570\u306e\u591a\u304f\u304c\u6a5f\u80fd\u7372\u5f97\u578b\u3067\u3042\u308b\u3053\u3068\u304b\u3089\u3001\u30c1\u30e3\u30cd\u30eb\u306e\u50cd\u304d\u3092\u30d6\u30ed\u30c3\u30af\u3059\u308b\u85ac\u306b\u6ce8\u76ee\u304c\u96c6\u307e\u3063\u3066\u3044\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u85ac\u304c\u3001\u3082\u3068\u3082\u3068\u4e0d\u6574\u8108\u6cbb\u7642\u85ac\u3067\u3042\u308b\u30ad\u30cb\u30b8\u30f3\u3067\u3059\u3002\u6d77\u5916\u304a\u3088\u3073\u56fd\u5185\u306e\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u3001\u767a\u4f5c\u306e\u6e1b\u5c11\u3084\u767a\u9054\u306e\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u30ad\u30cb\u30b8\u30f3\u306b\u306f\u5fc3\u81d3\u3078\u306e\u526f\u4f5c\u7528\u30ea\u30b9\u30af\u304c\u3042\u308a\u3001\u5fc3\u96fb\u56f3\u306b\u3088\u308b\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3092\u542b\u3081\u305f\u614e\u91cd\u306a\u7ba1\u7406\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u52b9\u679c\u306b\u306f\u5909\u7570\u306e\u7a2e\u985e\u306b\u3088\u308b\u5dee\u304c\u3042\u308a\u3001\u3059\u3079\u3066\u306e\u304a\u5b50\u3055\u3093\u306b\u52b9\u304f\u308f\u3051\u3067\u306f\u306a\u3044\u3053\u3068\u3082\u62bc\u3055\u3048\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002\u3088\u308a\u526f\u4f5c\u7528\u306e\u5c11\u306a\u3044KCNT1\u963b\u5bb3\u85ac\u306e\u958b\u767a\u3082\u3001\u4e16\u754c\u5404\u5730\u3067\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B1%E3%83%88%E3%83%B3%E9%A3%9F%E7%99%82%E6%B3%95\"><\/span>\u30b1\u30c8\u30f3\u98df\u7642\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u85ac\u3067\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u3044\u5834\u5408\u3001\u8102\u80aa\u5206\u3092\u591a\u304f\u3057\u7cd6\u8cea\u3092\u6291\u3048\u305f\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u304c\u9078\u629e\u80a2\u306b\u5165\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002KCNT1\u95a2\u9023\u3066\u3093\u304b\u3093\u306e\u60a3\u8005\u3055\u3093\u3067\u6709\u52b9\u3060\u3063\u305f\u3068\u3044\u3046\u5831\u544a\u3082\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E7%99%82%E8%82%B2\"><\/span>\u767a\u9054\u652f\u63f4\u3068\u7642\u80b2<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\u3067\u306f\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u75d9\u7e2e\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3001\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\u306a\u3069\u306e\u798f\u7949\u7528\u5177\u306e\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002\u4f5c\u696d\u7642\u6cd5\u3067\u306f\u611f\u899a\u3092\u990a\u3046\u904a\u3073\u3084\u65e5\u5e38\u751f\u6d3b\u306e\u5de5\u592b\u3092\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u3067\u306f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u306e\u78ba\u7acb\u3068\u6442\u98df\u56a5\u4e0b\u306e\u8a13\u7df4\u3092\u9032\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u98f2\u307f\u8fbc\u307f\u304c\u5f31\u304f\u6804\u990a\u304c\u5341\u5206\u306b\u6442\u308c\u306a\u3044\u5834\u5408\u306f\u3001\u80c3\u308d\u3046\u306b\u3088\u308b\u6804\u990a\u78ba\u4fdd\u304c\u8aa4\u56a5\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u3089\u3057\u3001\u98df\u4e8b\u6642\u9593\u306e\u8ca0\u62c5\u8efd\u6e1b\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u547c\u5438\u304c\u5f31\u3044\u5834\u5408\u306f\u5438\u5f15\u5668\u3084\u591c\u9593\u30e2\u30cb\u30bf\u30fc\u306e\u5229\u7528\u3082\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c754\u578b\uff08Developmental and epileptic encephalopathy 54\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c754\u578b\uff08DEE54\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002HNRNPU\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A8DEE14%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>7. NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068DEE14\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE14\u306f\u3001\u901a\u5e38\u306eNIPT\u306e\u30d1\u30cd\u30eb\u3067\u306f\u5bfe\u8c61\u5916\u3068\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002<\/strong>KCNT1\u95a2\u9023\u3066\u3093\u304b\u3093\u306b\u3064\u3044\u3066\u691c\u7d22\u3055\u308c\u305f\u65b9\u306b\u3068\u3063\u3066\u3001\u3082\u3063\u3068\u3082\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306aNIPT\u304c\u8abf\u3079\u3066\u3044\u308b\u306e\u306f\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3092\u542b\u3080\u62e1\u5f35\u691c\u67fb\u3082\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306f\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\u30fb\u91cd\u8907\u3057\u3066\u3044\u308b\u9818\u57df\u3092\u5bfe\u8c61\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>DEE14\u306e\u3088\u3046\u306b\u30011\u3064\u306e\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u306a\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u3001\u6bcd\u4f53\u8840\u4e2d\u306ecfDNA\u89e3\u6790\u3092\u7528\u3044\u305f\u901a\u5e38\u306eNIPT\u30d1\u30cd\u30eb\u3067\u306f\u3001\u539f\u7406\u4e0a\u3068\u3089\u3048\u306b\u304f\u3044\u5bfe\u8c61\u3060\u3068\u7406\u89e3\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb<\/strong>\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u57fa\u672c\u30c8\u30ea\u30bd\u30df\u30fc\u306b\u5bfe\u3057\u3066\u306f\u9ad8\u3044\u691c\u51fa\u611f\u5ea6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u305d\u308c\u306f\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u5bfe\u8c61\u3068\u3057\u305f\u5834\u5408\u306e\u6570\u5024\u3067\u3059\u3002KCNT1\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u691c\u51fa\u80fd\u529b\u3092\u793a\u3059\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3059\u3067\u306bKCNT1\u95a2\u9023\u3066\u3093\u304b\u3093\u306e\u8a3a\u65ad\u6b74\u304c\u3042\u308a\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u5f71\u97ff\u3092\u5fc3\u914d\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u306f\u3001NIPT\u3067\u306f\u306a\u304f\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u7f8a\u6c34\u691c\u67fb\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb<\/a>\u3067KCNT1\u907a\u4f1d\u5b50\u3092\u6a19\u7684\u306b\u3057\u305f\u89e3\u6790\u3092\u884c\u3046\u3001\u3042\u308b\u3044\u306f\u7740\u5e8a\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08PGT-M\uff09\u3092\u691c\u8a0e\u3059\u308b\u6d41\u308c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u300cNIPT\u3092\u53d7\u3051\u308c\u3070\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3082\u5b89\u5fc3\u304b\u300d\u3068\u3044\u3046\u8cea\u554f\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65e2\u77e5\u306e\u5bb6\u65cf\u6027\u75be\u60a3\u306b\u3064\u3044\u3066\u306f\u3001NIPT\u3067\u306f\u306a\u304f\u78ba\u5b9a\u691c\u67fb\u3067\u306e\u5bfe\u5fdc\u304c\u57fa\u672c\u306b\u306a\u308b\u3068\u304a\u4f1d\u3048\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u691c\u67fb\u306f\u3001\u56fd\u5185\u306e\u691c\u67fb\u6a5f\u95a2\uff08\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\uff09\u3067\u5b9f\u65bd\u3057\u3066\u3044\u307e\u3059\u3002\u691c\u67fb\u306e\u5bfe\u5fdc\u7bc4\u56f2\u306b\u3064\u3044\u3066\u4e0d\u660e\u306a\u70b9\u304c\u3042\u308c\u3070\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u306a\u304b\u3067\u3054\u8cea\u554f\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6%E3%81%A8%E7%9B%B8%E8%AB%87%E7%AA%93%E5%8F%A3%EF%BC%9A%E3%81%BE%E3%81%9A%E4%BD%95%E3%81%8B%E3%82%89%E5%A7%8B%E3%82%81%E3%82%8B%E3%81%8B\"><\/span><strong>8. \u652f\u63f4\u5236\u5ea6\u3068\u76f8\u8ac7\u7a93\u53e3\uff1a\u307e\u305a\u4f55\u304b\u3089\u59cb\u3081\u308b\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3089\u3001\u6cbb\u7642\u3068\u4e26\u884c\u3057\u3066\u4f7f\u3048\u308b\u516c\u7684\u652f\u63f4\u3092\u65e9\u3081\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u7a93\u53e3\u306b\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u7d50\u679c\u7684\u306b\u8fd1\u9053\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u767a\u9054\u75c7\u306e\u591a\u304f\u306f\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3084\u6307\u5b9a\u96e3\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u5bfe\u8c61\u3068\u306a\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u901a\u9662\u5148\u306e\u4e3b\u6cbb\u533b\u307e\u305f\u306f\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u7642\u80b2\u624b\u5e33\u30fb\u8eab\u4f53\u969c\u5bb3\u8005\u624b\u5e33\u306e\u53d6\u5f97\u306f\u3001\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3084\u624b\u5f53\u306e\u53d7\u7d66\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5150\u7ae5\u767a\u9054\u652f\u63f4\u4e8b\u696d\u6240\u3084\u653e\u8ab2\u5f8c\u7b49\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u3068\u3044\u3063\u305f\u969c\u5bb3\u5150\u901a\u6240\u652f\u63f4\u3082\u3001\u65e9\u671f\u304b\u3089\u5229\u7528\u3067\u304d\u308b\u9078\u629e\u80a2\u3067\u3059\u3002\u307e\u305a\u4f55\u304b\u3089\u624b\u3092\u3064\u3051\u308b\u304b\u8ff7\u3063\u305f\u3068\u304d\u306f\u3001\u901a\u9662\u5148\u306e\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3078\u306e\u76f8\u8ac7\u304c\u6700\u521d\u306e\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E8%A8%BA%E6%96%AD%E5%90%8D%E3%81%AE%E9%87%8D%E3%81%95%E3%81%A8%E5%90%91%E3%81%8D%E5%90%88%E3%81%86%E3%81%9F%E3%82%81%E3%81%AB\"><\/span><strong>9. \u307e\u3068\u3081\uff1a\u8a3a\u65ad\u540d\u306e\u91cd\u3055\u3068\u5411\u304d\u5408\u3046\u305f\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE14\u306fKCNT1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u304c\u3001\u540c\u3058\u907a\u4f1d\u5b50\u3067\u3082\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u8a3a\u65ad\u540d\u3060\u3051\u3067\u5c06\u6765\u3092\u6c7a\u3081\u3064\u3051\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3082\u3063\u3068\u3082\u91cd\u3044EIMFS\u578b\u306f\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u306e\u96e3\u6cbb\u3066\u3093\u304b\u3093\u3068\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u304c\u7279\u5fb4\u3067\u3001\u6bd4\u8f03\u7684\u8efd\u3044ADNFLE\u578b\u306f\u601d\u6625\u671f\u4ee5\u964d\u306e\u591c\u9593\u767a\u4f5c\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u539f\u56e0\u306e\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u306e\u305b\u3044\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u85ac\u306f\u52b9\u304d\u306b\u304f\u3044\u3082\u306e\u306e\u3001\u30ad\u30cb\u30b8\u30f3\u306a\u3069\u306e\u30c1\u30e3\u30cd\u30eb\u963b\u5bb3\u85ac\u306b\u3088\u308b\u7cbe\u5bc6\u533b\u7642\u306e\u53ef\u80fd\u6027\u304c\u63a2\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3060\u3051\u3067\u306a\u304f\u3001\u30ea\u30cf\u30d3\u30ea\u30fb\u6804\u990a\u7ba1\u7406\u30fb\u547c\u5438\u7ba1\u7406\u306a\u3069\u3001\u5168\u8eab\u3092\u30c8\u30fc\u30bf\u30eb\u3067\u30b1\u30a2\u3059\u308b\u8996\u70b9\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u75c7\u4f8b\u6570\u305d\u306e\u3082\u306e\u304c\u5c11\u306a\u304f\u3001\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3092\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002\u305d\u308c\u3067\u3082\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u305f\u3053\u3068\u3067\u3001\u6cbb\u7642\u306e\u9078\u629e\u80a2\u306f\u7740\u5b9f\u306b\u5e83\u304c\u3063\u3066\u3044\u307e\u3059\u3002\u5c02\u9580\u65bd\u8a2d\u3068\u306e\u7d99\u7d9a\u7684\u306a\u3064\u306a\u304c\u308a\u3092\u5927\u5207\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306bKCNT1\u95a2\u9023\u3066\u3093\u304b\u3093\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u65e2\u5f80\u304c\u3042\u308b\u5834\u5408\u3001NIPT\u3060\u3051\u3067\u5224\u65ad\u305b\u305a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u691c\u67fb\u306e\u5bfe\u8c61\u7bc4\u56f2\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u305fNIPT\u306e\u3054\u76f8\u8ac7\u306f\u3001\u4ee5\u4e0b\u304b\u3089\u4e88\u7d04\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%80%A7%E3%83%BB%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%8714%E5%9E%8B%EF%BC%88DEE14%EF%BC%89%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u767a\u9054\u6027\u30fb\u3066\u3093\u304b\u3093\u6027\u8133\u75c714\u578b\uff08DEE14\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>KCNT1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8133\u306e\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u304c\u50cd\u304d\u3059\u304e\u3001\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u306e\u96e3\u6cbb\u3066\u3093\u304b\u3093\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u751f\u3058\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u3082\u3063\u3068\u3082\u91cd\u3044\u30bf\u30a4\u30d7\u306f\u4e73\u5150\u904a\u8d70\u6027\u7126\u70b9\u767a\u4f5c\uff08EIMFS\uff09\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"KCNT1%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%8C%E3%81%82%E3%82%8B%E3%81%A8%E3%80%81%E5%BF%85%E3%81%9AEIMFS%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E9%87%8D%E3%81%84%E7%97%87%E7%8A%B6%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>KCNT1\u306e\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u5fc5\u305aEIMFS\u306e\u3088\u3046\u306a\u91cd\u3044\u75c7\u72b6\u306b\u306a\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3002KCNT1\u306e\u5909\u7570\u306f\u3001\u4e73\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u91cd\u75c7\u306eEIMFS\u578b\u304b\u3089\u3001\u601d\u6625\u671f\u4ee5\u964d\u306b\u591c\u9593\u767a\u4f5c\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u6bd4\u8f03\u7684\u8efd\u3044ADNFLE\u578b\u307e\u3067\u3001\u5e45\u5e83\u3044\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u5909\u7570\u306e\u4f4d\u7f6e\u3084\u50cd\u304d\u65b9\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DEE14%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>DEE14\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u5e38\u306eNIPT\u30d1\u30cd\u30eb\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002DEE14\u306f\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3042\u308a\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u4e00\u822c\u7684\u306aNIPT\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u3044\u305f\u3081\u3067\u3059\u3002\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u3084PGT-M\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DEE14%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>DEE14\u306f\u907a\u4f1d\u3059\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u91cd\u75c7\u578b\u3067\u3042\u308bEIMFS\u306e\u307b\u3068\u3093\u3069\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306e\u72b6\u6cc1\u3092\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DEE14%E3%81%AB%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>DEE14\u306b\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u52a0\u3048\u3001KCNT1\u5909\u7570\u304c\u6a5f\u80fd\u7372\u5f97\u578b\u3067\u3042\u308b\u3053\u3068\u3092\u8e0f\u307e\u3048\u305f\u30ad\u30cb\u30b8\u30f3\u306b\u3088\u308b\u7cbe\u5bc6\u533b\u7642\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u75c7\u72b6\u306e\u7de9\u548c\u3092\u56f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%E3%81%AB%E6%B0%97%E3%81%A5%E3%81%84%E3%81%9F%E3%81%A8%E3%81%8D%E3%80%81%E3%81%BE%E3%81%9A%E4%BD%95%E3%82%92%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u75c7\u72b6\u306b\u6c17\u3065\u3044\u305f\u3068\u304d\u3001\u307e\u305a\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u5f8c\u307e\u3082\u306a\u3044\u6642\u671f\u306b\u4f53\u306e\u3042\u3061\u3053\u3061\u306b\u79fb\u52d5\u3059\u308b\u767a\u4f5c\u3084\u767a\u9054\u306e\u505c\u6ede\u304c\u898b\u3089\u308c\u305f\u3089\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u3092\u53d7\u8a3a\u3057\u3001\u8133\u6ce2\u691c\u67fb\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3089\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3084\u6307\u5b9a\u96e3\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u304b\u3069\u3046\u304b\u3082\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK525917\/\" target=\"_blank\" rel=\"noopener\">Gertler T, Bearden D, Bhattacharjee A, et al. KCNT1-Related Epilepsy. 2018 Sep 20. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/kcnt1\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics: KCNT1 gene. U.S. National Library of Medicine.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23086396\/\" target=\"_blank\" rel=\"noopener\">Heron SE, Smith KR, Bahlo M, et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/26740507\/\" target=\"_blank\" rel=\"noopener\">Lim CX, Ricos MG, Dibbens LM, Heron SE. KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. J Med Genet. 2016.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31872048\/\" target=\"_blank\" rel=\"noopener\">Barcia G, Chemaly N, Kuchenbuch M, et al. Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability. Neurol Genet. 2019.<\/a><\/li>\n<\/ul>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \uff0f \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u3002\u65e5\u672c\u306b20\u4eba\u307b\u3069\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002\u672c\u8a18\u4e8b\u306fGeneReviews\u30fbMedlinePlus Genetics\u30fb\u67fb\u8aad\u6e08\u307f\u533b\u5b66\u8ad6\u6587\u306a\u3069\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u75c7\u4f8b\u6570\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u3001\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u7d4c\u904e\u306f\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c714\u578b, DEE14, KCNT1, \u4e73\u5150\u904a\u8d70\u6027\u7126\u70b9\u767a\u4f5c, EIMFS, MMPSI, \u5e38\u67d3\u8272\u4f53\u9855\u6027\u591c\u9593\u524d\u982d\u8449\u3066\u3093\u304b\u3093, ADNFLE, \u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb, \u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570, \u30ad\u30cb\u30b8\u30f3, \u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3, \u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093, \u65b0\u751f\u7a81\u7136\u5909\u7570, \u9855\u6027\u907a\u4f1d, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, \u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3, \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/sup><\/sup><\/p>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"WebPage\",\n  \"mainEntity\": {\n    \"@type\": \"MedicalCondition\",\n    \"name\": \"\u767a\u9054\u6027\u30fb\u3066\u3093\u304b\u3093\u6027\u8133\u75c714\u578b\uff08DEE14\uff09\",\n    \"alternateName\": 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