{"id":123264,"date":"2026-01-16T12:11:08","date_gmt":"2026-01-16T03:11:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123264"},"modified":"2026-07-27T06:04:48","modified_gmt":"2026-07-26T21:04:48","slug":"developmental-epileptic-encephalopathy-92-gabra5-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-92-gabra5-guide\/","title":{"rendered":"GABRA5\u907a\u4f1d\u5b50\u3068DEE79\uff5c\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u30ac\u30a4\u30c9"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 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=\"#\" 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ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-92-gabra5-guide\/#%E7%99%BA%E9%81%94%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u767a\u9054\u306e\u898b\u901a\u3057\u306f\u3069\u306e\u304f\u3089\u3044\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-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-92-gabra5-guide\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%AE%E7%B5%90%E8%AB%96\"><\/span>\u3053\u306e\u8a18\u4e8b\u306e\u7d50\u8ad6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>GABRA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306f\u3001\u533b\u5b66\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff08OMIM\uff09\u4e0a\u3067\u306f79\u578b\uff08DEE79\uff09\u306b\u5206\u985e\u3055\u308c\u3001\u751f\u5f8c2\u301c4\u304b\u6708\u9803\u3068\u3044\u3046\u975e\u5e38\u306b\u65e9\u3044\u6642\u671f\u304b\u3089\u306e\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3068\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3092\u7279\u5fb4\u3068\u3059\u308b\u8d85\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/strong>\u540c\u3058GABA-A\u53d7\u5bb9\u4f53\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3082\u3001GABRA1\u306e\u5909\u7570\u306f19\u578b\uff08DEE19\uff09\u3001GABRB2\u306e\u5909\u7570\u306f92\u578b\uff08DEE92\uff09\u3068\u3044\u3046\u5225\u306e\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u7a2e\u985e\u304c\u9055\u3046\u3060\u3051\u3067\u3001\u767a\u75c7\u6642\u671f\u3084\u75c7\u72b6\u306e\u51fa\u65b9\u306f\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\u5909\u7570\uff09\u3067\u767a\u751f\u3057\u3066\u304a\u308a\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u5168\u4f53\u50cf\u3068\u3001\u540d\u79f0\u304c\u7d1b\u3089\u308f\u3057\u3044\u985e\u4f3c\u75be\u60a3\u3068\u306e\u9055\u3044\u3092\u3001\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u6e90\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:solid #e6f0ff 0.6rem;background-color:#f7fbff;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>GABRA5\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff08DEE79\uff09\u306e\u75c7\u72b6\u3068\u767a\u75c7\u6642\u671f<\/li>\n<li>\u306a\u305c\u3053\u306e\u75c5\u6c17\u306e\u547c\u3073\u65b9\u306b\u300c92\u578b\u300d\u3068\u300c79\u578b\u300d\u306e\u4e21\u65b9\u304c\u898b\u3089\u308c\u308b\u306e\u304b\u3001\u540d\u79f0\u306e\u6574\u7406<\/li>\n<li>\u540c\u3058GABA-A\u53d7\u5bb9\u4f53\u306b\u95a2\u308f\u308bGABRA1\u907a\u4f1d\u5b50\u30fbGABRB2\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044\u3068\u898b\u5206\u3051\u65b9<\/li>\n<li>\u8a3a\u65ad\u306b\u5fc5\u8981\u306a\u691c\u67fb\u3001\u6cbb\u7642\u3068\u30b1\u30a2\u306e\u9078\u629e\u80a2\u3001\u598a\u5a20\u4e2d\u306e\u691c\u67fb\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u3068\u306e\u95a2\u4fc2<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u533b\u5e2b\u304b\u3089Developmental and epileptic encephalopathy\u3068\u3044\u3046\u975e\u5e38\u306b\u9577\u304f\u3001\u805e\u304d\u6163\u308c\u306a\u3044\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>\u307e\u3060\u5c0f\u3055\u306a\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\u5831\u544a\u6570\u304c\u6570\u4f8b\u306b\u3068\u3069\u307e\u308b\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3042\u308a\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\u3001\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u539f\u56e0\u3068\u306a\u308bGABRA5\uff08\u30ae\u30e3\u30d6\u30e9\u30fb\u30d5\u30a1\u30a4\u30d6\uff09\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u3001\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\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\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u6d77\u5916\u306e\u533b\u5b66\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9OMIM\uff08Online Mendelian Inheritance in Man\uff09\u3067\u306f\u3001\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c779\u578b\uff08DEE79\uff09\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u75c7\u3068\u3044\u3046\u8a00\u8449\u3084\u756a\u53f7\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\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306e\u901a\u3057\u756a\u53f7\u3067\u3042\u308a\u3001\u91cd\u75c7\u5ea6\u3092\u8868\u3059\u6570\u5b57\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u539f\u56e0\u304c\u907a\u4f1d\u5b50\u306b\u3042\u308b\u3068\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\u304a\u5b50\u3055\u3093\u306b\u5408\u3063\u305f\u7642\u80b2\u3084\u30b1\u30a2\u306e\u30d7\u30e9\u30f3\u3092\u8003\u3048\u308b\u305f\u3081\u306e\u5730\u56f3\u3092\u624b\u306b\u5165\u308c\u305f\u3068\u3044\u3046\u3053\u3068\u3067\u3082\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\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%A6%82%E8%A6%81%EF%BC%9AGABRA5%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8DEE79%E3%81%A8%E3%81%AF\"><\/span><strong>1. \u6982\u8981\uff1aGABRA5\u907a\u4f1d\u5b50\u3068DEE79\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GABRA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u306e\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306b\u3042\u308b\u30d6\u30ec\u30fc\u30ad\u5f79\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3001\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u73fe\u308c\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u307e\u305a\u3001\u75c5\u540d\u30b0\u30eb\u30fc\u30d7\u306e\u610f\u5473\u3092\u6574\u7406\u3057\u3066\u304a\u304d\u307e\u3057\u3087\u3046\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\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\u3059\u8a00\u8449\u3067\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\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\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\u3053\u306e\u75c5\u6c17\u306f\u3001\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\u3068\u3044\u3046\u4e8c\u3064\u306e\u8981\u7d20\u304c\u5408\u308f\u3055\u3063\u3066\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002\u56fd\u5185\u5916\u3067\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u6570\u306f\u6975\u3081\u3066\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u6570\u5c11\u306a\u3044\u75c7\u4f8b\u5831\u544a\u304b\u3089\u7279\u5fb4\u3092\u7a4d\u307f\u4e0a\u3052\u3066\u304d\u305f\u3001\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3060\u3068\u3054\u7406\u89e3\u304f\u3060\u3055\u3044\u3002<\/p>\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%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C%E3%81%A8%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306e\u75c7\u72b6\u306f\u3001\u751f\u5f8c2\u301c4\u304b\u6708\u9803\u3068\u3044\u3046\u65e9\u3044\u6642\u671f\u306b\u59cb\u307e\u308b\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u3001\u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/strong>\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\u306e\u75c7\u4f8b\u5831\u544a\u306b\u3082\u3068\u3065\u304f\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3092\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=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C\"><\/span><strong>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u767a\u4f5c\u306e\u59cb\u307e\u308a\u306f\u3001\u751f\u5f8c2\u304b\u6708\u304b\u30894\u304b\u6708\u9803\u3068\u3044\u3046\u4e73\u5150\u671f\u65e9\u671f\u3067\u3059\u3002\u767a\u4f5c\u306e\u5f62\u306f\u4e00\u7a2e\u985e\u3067\u306f\u306a\u304f\u3001\u8907\u6570\u306e\u30bf\u30a4\u30d7\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u767a\u4f5c\u306e\u30bf\u30a4\u30d7<\/th><th>\u4e3b\u306a\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u767a\u4f5c<\/td><td>\u624b\u8db3\u3084\u4f53\u304c\u4e00\u77ac\u30d3\u30af\u30c3\u3068\u3059\u308b\u767a\u4f5c<\/td><\/tr><tr><td>\u5f37\u76f4\u767a\u4f5c<\/td><td>\u624b\u8db3\u304c\u7a81\u3063\u5f35\u3063\u3066\u786c\u304f\u306a\u308b\u767a\u4f5c<\/td><\/tr><tr><td>\u53e3\u90e8\u81ea\u52d5\u75c7<\/td><td>\u53e3\u3092\u3082\u3050\u3082\u3050\u3055\u305b\u308b\u3088\u3046\u306a\u7121\u610f\u8b58\u306e\u52d5\u304d<\/td><\/tr><tr><td>\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c<\/td><td>\u5168\u8eab\u304c\u786c\u76f4\u3057\u305f\u3042\u3068\u306b\u30ac\u30af\u30ac\u30af\u3068\u9707\u3048\u308b\u767a\u4f5c<\/td><\/tr><tr><td>\u904a\u8d70\u6027\u7126\u70b9\u767a\u4f5c<\/td><td>\u767a\u4f5c\u306e\u8d77\u304d\u308b\u8133\u306e\u5834\u6240\u304c\u79fb\u52d5\u3057\u3066\u3044\u304f\u3088\u3046\u306b\u898b\u3048\u308b\u767a\u4f5c<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3053\u308c\u3089\u306e\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\u3001\u767a\u4f5c\u3092\u30bc\u30ed\u306b\u3059\u308b\u3053\u3068\u3060\u3051\u3092\u76ee\u6307\u3059\u306e\u3067\u306f\u306a\u304f\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3061\u306a\u304c\u3089\u767a\u4f5c\u3068\u3046\u307e\u304f\u4ed8\u304d\u5408\u3063\u3066\u3044\u304f\u8996\u70b9\u3082\u5fc5\u8981\u306b\u306a\u308a\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><strong>\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\u3042\u308b\u3044\u306f\u767a\u4f5c\u304c\u59cb\u307e\u308b\u524d\u304b\u3089\u3001\u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u9996\u304c\u3059\u308f\u308b\u3001\u76ee\u3067\u3082\u306e\u3092\u8ffd\u3046\u3001\u304a\u5ea7\u308a\u3092\u3059\u308b\u3068\u3044\u3063\u305f\u904b\u52d5\u9762\u3068\u3001\u3042\u3084\u3059\u3068\u7b11\u3046\u3001\u8a00\u8449\u3092\u7406\u89e3\u3059\u308b\u3068\u3044\u3063\u305f\u7cbe\u795e\u9762\u306e\u4e21\u65b9\u304c\u3001\u4e00\u822c\u7684\u306a\u30da\u30fc\u30b9\u3088\u308a\u304b\u306a\u308a\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306e\u4e2d\u306b\u306f\u30013\u301c7\u6b73\u306b\u306a\u3063\u3066\u3082\u8a00\u8449\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u96e3\u3057\u3044\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u4f53\u306e\u7dca\u5f35\u306b\u3064\u3044\u3066\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u306b\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\u5834\u5408\u3068\u3001\u9006\u306b\u624b\u8db3\u304c\u7a81\u3063\u5f35\u308a\u3084\u3059\u3044\u75d9\u7e2e\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306e\u4e21\u65b9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3069\u3061\u3089\u304c\u51fa\u308b\u304b\u306f\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u306e\u753b\u50cf\u691c\u67fb\uff08MRI\uff09\u3067\u306f\u3001\u8133\u306e\u795e\u7d4c\u7dda\u7dad\u3092\u8986\u3046\u819c\u306e\u5f62\u6210\u304c\u4e0d\u5341\u5206\u306a\u9ac4\u9798\u5316\u4e0d\u826f\u3001\u8133\u5168\u4f53\u304c\u3084\u3084\u5c0f\u3055\u304f\u306a\u308b\u8133\u840e\u7e2e\u3001\u8133\u6881\u3068\u3044\u3046\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u90e8\u5206\u304c\u8584\u304f\u306a\u308b\u6240\u898b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u306b\u3064\u3044\u3066\u306e\u5831\u544a\u306f\u5c11\u306a\u304f\u3001\u5916\u898b\u3060\u3051\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\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\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/4329145_s.webp\" alt=\"\u4e73\u5150\u306e\u3066\u3093\u304b\u3093\u6cbb\u7642\u3084\u98df\u4e8b\u7642\u6cd5\u306b\u3064\u3044\u3066\u691c\u8a0e\u3059\u308b\u5bb6\u65cf\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-123141\"\/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%EF%BC%9AGABRA5%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8GABA-A%E5%8F%97%E5%AE%B9%E4%BD%93%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>3. \u539f\u56e0\uff1aGABRA5\u907a\u4f1d\u5b50\u3068GABA-A\u53d7\u5bb9\u4f53\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306b\u3042\u308b\u30d6\u30ec\u30fc\u30ad\u30b7\u30b9\u30c6\u30e0\u3001GABA-A\u53d7\u5bb9\u4f53\u306e\u8a2d\u8a08\u56f3\u3067\u3042\u308bGABRA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/strong>\u306a\u305c\u3001\u3066\u3093\u304b\u3093\u304c\u8d77\u304d\u305f\u308a\u767a\u9054\u304c\u9045\u308c\u305f\u308a\u3059\u308b\u306e\u304b\u3001\u305d\u306e\u4ed5\u7d44\u307f\u3092\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=\"GABRA5%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>GABRA5\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GABRA5\u907a\u4f1d\u5b50\u306f\u3001\u7b2c15\u756a\u67d3\u8272\u4f53\uff0815q11\u301cq13\u306e\u9818\u57df\uff09\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u306f\u3001GABRB3\u30fbGABRG3\u3068\u3044\u3046\u95a2\u9023\u907a\u4f1d\u5b50\u3082\u8fd1\u63a5\u3057\u3066\u4e26\u3093\u3067\u304a\u308a\u3001\u307e\u3068\u3081\u3066GABA-A\u53d7\u5bb9\u4f53\u907a\u4f1d\u5b50\u30af\u30e9\u30b9\u30bf\u30fc\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>GABRA5\u907a\u4f1d\u5b50\u306f\u3001GABA\uff08\u30ae\u30e3\u30d0\uff09\u53d7\u5bb9\u4f53\u3068\u3044\u3046\u3001\u8133\u306e\u4e2d\u3067\u975e\u5e38\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u90e8\u54c1\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002GABA\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u8208\u596e\u3092\u6291\u3048\u308b\u3001\u3044\u308f\u3070\u30d6\u30ec\u30fc\u30ad\u306e\u5f79\u5272\u3092\u3059\u308b\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3067\u3059\u3002\u795e\u7d4c\u7d30\u80de\u306e\u8868\u9762\u306b\u306f\u3001\u3053\u306eGABA\u3092\u53d7\u3051\u53d6\u308b\u305f\u3081\u306e\u53d7\u3051\u76bf\u3001\u3064\u307e\u308aGABA-A\u53d7\u5bb9\u4f53\u304c\u3042\u308a\u3001GABRA5\u907a\u4f1d\u5b50\u306f\u305d\u306e\u90e8\u54c1\u306e\u4e00\u3064\u3067\u3042\u308b\u30a2\u30eb\u30d5\u30a15\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002\u30a2\u30eb\u30d5\u30a15\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306f\u3001\u8133\u5168\u4f53\u306b\u5747\u7b49\u306b\u3042\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u8a18\u61b6\u3084\u5b66\u7fd2\u306b\u95a2\u308f\u308b\u6d77\u99ac\u3068\u3044\u3046\u90e8\u4f4d\u306b\u591a\u304f\u5b58\u5728\u3057\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u5916\u5074\u3067\u6301\u7d9a\u7684\u306a\u6291\u5236\uff08\u7dca\u5f35\u6027\u6291\u5236\uff09\u3092\u62c5\u3046\u3068\u3044\u3046\u7279\u5fb4\u3092\u6301\u3061\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>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u53ce\u8f09\u3055\u308c\u305f\u7814\u7a76\u5831\u544a\u306b\u3088\u308b\u3068\u3001GABRA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306e\u53d7\u5bb9\u4f53\u3092\u7d30\u80de\u30ec\u30d9\u30eb\u3067\u8abf\u3079\u305f\u3068\u3053\u308d\u3001\u6b63\u5e38\u306a\u53d7\u5bb9\u4f53\u3068\u6bd4\u3079\u3066GABA\u3078\u306e\u611f\u53d7\u6027\u304c\u6700\u5927\u306710\u500d\u307b\u3069\u9ad8\u307e\u3063\u3066\u3044\u308b\u4e00\u65b9\u3001\u53d7\u5bb9\u4f53\u304c\u523a\u6fc0\u306b\u6163\u308c\u3066\u53cd\u5fdc\u3057\u306a\u304f\u306a\u308b\u8131\u611f\u4f5c\u304c\u9032\u307f\u3084\u3059\u304f\u306a\u308a\u3001\u6700\u7d42\u7684\u306b\u6d41\u308c\u308b\u96fb\u6d41\u306e\u91cf\u306f\u304b\u3048\u3063\u3066\u5c11\u306a\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u30d6\u30ec\u30fc\u30ad\u306e\u5229\u304d\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u3063\u305f\u8eca\u306e\u3088\u3046\u306b\u3001\u8133\u306e\u795e\u7d4c\u56de\u8def\u306b\u304a\u3051\u308b\u8208\u596e\u3068\u6291\u5236\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u304c\u904e\u5270\u306b\u8208\u596e\u3057\u3066\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u8d77\u304d\u305f\u308a\u3001\u6b63\u5e38\u306a\u795e\u7d4c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306e\u5f62\u6210\u304c\u59a8\u3052\u3089\u308c\u3066\u767a\u9054\u306e\u9045\u308c\u304c\u751f\u3058\u305f\u308a\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002GABRA5\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u306b\u76f4\u63a5\u50cd\u304d\u304b\u3051\u308b\u6cbb\u7642\u85ac\u306f\u30012026\u5e74\u6642\u70b9\u3067\u306f\u307e\u3060\u7814\u7a76\u6bb5\u968e\u3067\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\u3057\u304b\u3057\u3001\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308bGABRA5\u95a2\u9023\u306e\u30b1\u30fc\u30b9\u306f\u3001\u3044\u305a\u308c\u3082\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\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\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\u306bGABRA5\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u907a\u4f1d\u5f62\u5f0f\u305d\u306e\u3082\u306e\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u304c\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\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\u306a\u304f\u3001\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u5076\u7136\u306e\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_GABRA1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%BBGABRB2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>4. GABRA1\u907a\u4f1d\u5b50\u30fbGABRB2\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u540c\u3058GABA-A\u53d7\u5bb9\u4f53\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3082\u3001GABRA5\u30fbGABRA1\u30fbGABRB2\u306f\u305d\u308c\u305e\u308c\u7570\u306a\u308b\u75c5\u6c17\uff08DEE79\u30fbDEE19\u30fbDEE92\uff09\u306e\u539f\u56e0\u3068\u306a\u308a\u3001\u767a\u75c7\u6642\u671f\u3084\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u540d\u79f0\u304c\u7d1b\u3089\u308f\u3057\u3044\u305f\u3081\u3001\u3053\u306e\u7ae0\u3067\u6574\u7406\u3057\u3066\u304a\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>GABA-A\u53d7\u5bb9\u4f53\u306f\u3001\u30a2\u30eb\u30d5\u30a1\u30fb\u30d9\u30fc\u30bf\u30fb\u30ac\u30f3\u30de\u306a\u3069\u8907\u6570\u306e\u7a2e\u985e\u306e\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304c5\u500b\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u3067\u304d\u3066\u3044\u307e\u3059\u3002GABRA5\u3068GABRA1\u306f\u3069\u3061\u3089\u3082\u300c\u30a2\u30eb\u30d5\u30a1\u300d\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u4ef2\u9593\u3067\u3059\u304c\u3001\u62c5\u5f53\u3059\u308b\u5834\u6240\u3068\u5f79\u5272\u304c\u7570\u306a\u308a\u307e\u3059\u3002GABRA5\uff08\u30a2\u30eb\u30d5\u30a15\uff09\u306f\u4e3b\u306b\u6d77\u99ac\u306b\u5b58\u5728\u3057\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u5916\u5074\u3067\u6301\u7d9a\u7684\u306a\u6291\u5236\u3092\u62c5\u3046\u306e\u306b\u5bfe\u3057\u3001GABRA1\uff08\u30a2\u30eb\u30d5\u30a11\uff09\u306f\u8133\u5185\u3067\u6700\u3082\u6570\u304c\u591a\u3044\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3067\u3001\u30b7\u30ca\u30d7\u30b9\u305d\u306e\u3082\u306e\u306e\u77ac\u9593\u7684\u306a\u6291\u5236\u4f1d\u9054\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002GABRB2\u306f\u300c\u30d9\u30fc\u30bf\u300d\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3067\u3001\u30a2\u30eb\u30d5\u30a1\u30fb\u30ac\u30f3\u30de\u3068\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u53d7\u5bb9\u4f53\u305d\u306e\u3082\u306e\u3092\u69cb\u6210\u3059\u308b\u90e8\u54c1\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u539f\u56e0\u907a\u4f1d\u5b50<\/th><th>\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u5f79\u5272<\/th><th>\u95a2\u9023\u3059\u308b\u75c5\u578b\uff08OMIM\uff09<\/th><th>\u767a\u75c7\u6642\u671f\u306e\u76ee\u5b89<\/th><\/tr><\/thead><tbody><tr><td>GABRA5<\/td><td>\u30a2\u30eb\u30d5\u30a15\uff1a\u6d77\u99ac\u306e\u7dca\u5f35\u6027\uff08\u6301\u7d9a\u7684\uff09\u6291\u5236<\/td><td>DEE79<\/td><td>\u751f\u5f8c2\u301c4\u304b\u6708\u9803<\/td><\/tr><tr><td>GABRA1<\/td><td>\u30a2\u30eb\u30d5\u30a11\uff1a\u8133\u5185\u3067\u6700\u591a\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u77ac\u9593\u7684\u6291\u5236<\/td><td>DEE19<\/td><td>\u751f\u5f8c8\u301c12\u304b\u6708\u9803<\/td><\/tr><tr><td>GABRB2<\/td><td>\u30d9\u30fc\u30bf2\uff1a\u53d7\u5bb9\u4f53\u3092\u69cb\u6210\u3059\u308b\u90e8\u54c1\u306e\u4e00\u3064<\/td><td>DEE92<\/td><td>\u4e73\u5150\u671f\u301c\u5c0f\u5150\u671f\uff08\u5831\u544a\u306b\u3088\u308a\u5e45\u3042\u308a\uff09<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306b\u53ce\u8f09\u3055\u308c\u305f\u7814\u7a76\u3067\u306f\u3001GABRA5\u5909\u7570\u306e\u60a3\u8005\u3055\u3093\u306f\u751f\u5f8c2\u301c4\u304b\u6708\u3067\u767a\u4f5c\u304c\u59cb\u307e\u308a\u8133\u840e\u7e2e\u3092\u4f34\u3046\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u306e\u306b\u5bfe\u3057\u3001GABRA1\u5909\u7570\u306e\u60a3\u8005\u3055\u3093\u306f\u751f\u5f8c4\u301c12\u304b\u6708\u3067\u767a\u4f5c\u304c\u59cb\u307e\u308a\u3001\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u5168\u822c\u767a\u4f5c\u578b\u3092\u793a\u3059\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u540c\u3058\u300cGABA-A\u53d7\u5bb9\u4f53\u306e\u907a\u4f1d\u5b50\u300d\u3068\u3044\u3046\u62ec\u308a\u3067\u691c\u7d22\u3059\u308b\u3068\u6df7\u540c\u3057\u3084\u3059\u3044\u306e\u3067\u3059\u304c\u3001\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304c\u4e00\u3064\u9055\u3046\u3060\u3051\u3067\u3001\u767a\u75c7\u6642\u671f\u3082\u8133\u3078\u306e\u5f71\u97ff\u306e\u51fa\u65b9\u3082\u306f\u3063\u304d\u308a\u3068\u7570\u306a\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u300c\u540c\u3058GABA\u306e\u907a\u4f1d\u5b50\u306a\u306e\u306b\u3001\u306a\u305c\u5168\u7136\u9055\u3046\u75c5\u540d\u306b\u306a\u308b\u306e\u3067\u3059\u304b\u300d\u3068\u3044\u3046\u3054\u8cea\u554f\u3092\u3044\u305f\u3060\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4eba\u9593\u306e\u4f53\u306b\u306f\u7121\u6570\u306e\u907a\u4f1d\u5b50\u304c\u3042\u308a\u3001\u4f3c\u305f\u540d\u524d\u306e\u907a\u4f1d\u5b50\u3067\u3082\u62c5\u5f53\u3059\u308b\u4ed5\u4e8b\u304c\u307e\u3063\u305f\u304f\u9055\u3046\u3053\u3068\u306f\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002GABRA5\u30fbGABRA1\u30fbGABRB2\u306e\u95a2\u4fc2\u306f\u3001\u305d\u306e\u5178\u578b\u4f8b\u3060\u3068\u3044\u3048\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-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\u75c719\u578b\uff08Developmental and epileptic encephalopathy 19\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c719\u578b\uff08DEE19\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002GABRA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u305d\u3057\u3066\u7642\u80b2\u3084...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/\">GABRA1\u907a\u4f1d\u5b50\u306b\u3088\u308b\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c719\u578b\uff08DEE19\uff09<\/a>\u306f\u3001\u767a\u71b1\u3092\u304d\u3063\u304b\u3051\u306b\u767a\u4f5c\u304c\u8a98\u767a\u3055\u308c\u3084\u3059\u3044\u70b9\u3084\u3001\u767a\u75c7\u304c\u3084\u3084\u9045\u3044\u70b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u3044\u305f\u3060\u304f\u3068\u3001\u6df7\u540c\u3092\u907f\u3051\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002GABA\u3068\u3044\u3046\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u30d0\u30e9\u30f3\u30b9\u306f\u3001\u3066\u3093\u304b\u3093\u3060\u3051\u3067\u306a\u304f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306a\u3069\u767a\u9054\u969c\u5bb3\u5168\u822c\u3068\u3082\u95a2\u308f\u308a\u304c\u6307\u6458\u3055\u308c\u3066\u304a\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/\">GABA\u6975\u6027\u30b7\u30d5\u30c8\u3068\u767a\u9054\u969c\u5bb3\u306e\u3064\u306a\u304c\u308a<\/a>\u306e\u8a18\u4e8b\u3067\u3082\u80cc\u666f\u3068\u306a\u308b\u79d1\u5b66\u3092\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\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\"><\/span><strong>5. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\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<\/strong>\u305d\u308c\u305e\u308c\u306e\u691c\u67fb\u3067\u4f55\u3092\u78ba\u8a8d\u3059\u308b\u306e\u304b\u3001\u9806\u306b\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=\"%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span><strong>\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\u8133\u306e\u6d3b\u52d5\u72b6\u614b\u3092\u8abf\u3079\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u691c\u67fb\u3067\u3059\u3002\u3066\u3093\u304b\u3093\u6027\u306e\u7a81\u767a\u6ce2\uff08\u30b9\u30d1\u30a4\u30af\uff09\u304c\u591a\u767a\u3057\u305f\u308a\u3001\u8133\u5168\u4f53\u306e\u96fb\u6c17\u6d3b\u52d5\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u5f90\u6ce2\u5316\u304c\u898b\u3089\u308c\u305f\u308a\u3057\u307e\u3059\u3002\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u3092\u7279\u5b9a\u3057\u3001\u85ac\u3092\u9078\u3076\u305f\u3081\u306b\u3082\u7e70\u308a\u8fd4\u3057\u884c\u308f\u308c\u307e\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><strong>\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\u767a\u75c7\u521d\u671f\u306b\u306f\u660e\u3089\u304b\u306a\u7570\u5e38\u304c\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u7d4c\u904e\u3068\u3068\u3082\u306b\u9ac4\u9798\u5316\u4e0d\u826f\u3084\u8133\u840e\u7e2e\u3001\u8133\u6881\u306e\u83f2\u8584\u5316\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4ed6\u306e\u75c5\u6c17\u3092\u9664\u5916\u3059\u308b\u305f\u3081\u306b\u3082\u91cd\u8981\u306a\u691c\u67fb\u3067\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><strong>\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\u8fd1\u5e74\u666e\u53ca\u3057\u3066\u304d\u305f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\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\u306e\u75c5\u6c17\u306f\u6975\u3081\u3066\u7a00\u3067\u3042\u308b\u305f\u3081\u3001\u75c7\u72b6\u3060\u3051\u3067\u306f\u8a3a\u65ad\u304c\u3064\u304b\u305a\u3001\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3063\u3066\u521d\u3081\u3066GABRA5\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\u8a3a\u65ad\u540d\u3068\u3057\u3066\u300cGABRA5\u95a2\u9023\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u300d\u300cDEE79\u300d\u306e\u3044\u305a\u308c\u3067\u5831\u544a\u3055\u308c\u308b\u304b\u306f\u3001\u691c\u67fb\u3092\u884c\u3063\u305f\u65bd\u8a2d\u3084\u53c2\u7167\u3059\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\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%E7%AE%A1%E7%90%86\"><\/span><strong>6. \u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\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\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u30b5\u30dd\u30fc\u30c8\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u82e6\u75db\u3092\u548c\u3089\u3052\u3001\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=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span><strong>\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642<\/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\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u4e73\u5150\u671f\u767a\u75c7\u306e\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u306b\u5bfe\u3057\u3066\u306f\u3001\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\u304c\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5408\u308f\u305b\u3066\u8a66\u3055\u308c\u307e\u3059\u304c\u3001GABRA5\u5909\u7570\u306b\u7279\u5316\u3057\u305f\u85ac\u5264\u9078\u629e\u306e\u30a8\u30d3\u30c7\u30f3\u30b9\u306f\u307e\u3060\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u304a\u85ac\u3060\u3051\u3067\u767a\u4f5c\u304c\u6b62\u307e\u3089\u306a\u3044\u5834\u5408\u306f\u3001\u8102\u80aa\u5206\u3092\u591a\u304f\u7cd6\u8cea\u3092\u5c11\u306a\u304f\u3057\u305f\u98df\u4e8b\u3067\u8133\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u6e90\u3092\u5207\u308a\u66ff\u3048\u308b\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u304c\u691c\u8a0e\u3055\u308c\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=\"%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E7%99%82%E8%82%B2\"><\/span><strong>\u767a\u9054\u652f\u63f4\u3068\u7642\u80b2<\/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\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u75d9\u7e2e\u306b\u5408\u308f\u305b\u3066\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u7df4\u7fd2\u3084\u95a2\u7bc0\u304c\u786c\u304f\u306a\u3089\u306a\u3044\u305f\u3081\u306e\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u611f\u899a\u3092\u990a\u3044\u3001\u904a\u3073\u3092\u901a\u3058\u3066\u5916\u754c\u3078\u306e\u8208\u5473\u3092\u5f15\u304d\u51fa\u3059\u3068\u3068\u3082\u306b\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u5de5\u592b\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u3092\u4fc3\u3059\u3068\u3068\u3082\u306b\u3001\u98df\u3079\u308b\u6a5f\u80fd\uff08\u6442\u98df\u56a5\u4e0b\uff09\u306e\u8a13\u7df4\u3092\u884c\u3044\u3001\u53e3\u304b\u3089\u98df\u3079\u308b\u697d\u3057\u307f\u3092\u652f\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\u3084\u8eca\u6905\u5b50\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u4f53\u306b\u5408\u3063\u305f\u798f\u7949\u7528\u5177\u3092\u9078\u3076\u969b\u306b\u3082\u3001\u7642\u80b2\u306e\u5c02\u9580\u5bb6\u304b\u3089\u5177\u4f53\u7684\u306a\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A0%84%E9%A4%8A%E3%83%BB%E5%91%BC%E5%90%B8%E3%83%BB%E6%84%9F%E6%9F%93%E7%97%87%E5%AF%BE%E7%AD%96\"><\/span><strong>\u6804\u990a\u30fb\u547c\u5438\u30fb\u611f\u67d3\u75c7\u5bfe\u7b56<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u91cd\u5ea6\u306e\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3067\u306f\u3001\u98f2\u307f\u8fbc\u3080\u529b\u304c\u5f31\u304f\u53e3\u304b\u3089\u5341\u5206\u306a\u6804\u990a\u304c\u6442\u308c\u306a\u3044\u5834\u5408\u3084\u3001\u547c\u5438\u306e\u529b\u304c\u5f31\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7d4c\u7ba1\u6804\u990a\u3084\u80c3\u308d\u3046\u3001\u5728\u5b85\u9178\u7d20\u7642\u6cd5\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u7b4b\u7dca\u5f35\u304c\u5f31\u3044\u304a\u5b50\u3055\u3093\u306f\u98a8\u90aa\u3092\u3053\u3058\u3089\u305b\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308b\u305f\u3081\u3001\u624b\u6d17\u3044\u3084\u4e88\u9632\u63a5\u7a2e\u306a\u3069\u57fa\u672c\u7684\u306a\u611f\u67d3\u5bfe\u7b56\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\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\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E5%AE%B6%E6%97%8F%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%81%A8%E7%9B%B8%E8%AB%87%E7%AA%93%E5%8F%A3\"><\/span><strong>7. \u5bb6\u65cf\u306e\u30b5\u30dd\u30fc\u30c8\u3068\u76f8\u8ac7\u7a93\u53e3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5831\u544a\u4f8b\u304c\u6570\u3048\u308b\u307b\u3069\u3057\u304b\u306a\u3044\u8d85\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u8eab\u8fd1\u306b\u540c\u3058\u7d4c\u9a13\u3092\u3057\u305f\u4eba\u304c\u898b\u3064\u304b\u308a\u306b\u304f\u304f\u3001\u3054\u5bb6\u65cf\u304c\u5b64\u7acb\u3092\u611f\u3058\u3084\u3059\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u5927\u5207\u306a\u306e\u306f\u3001\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u8907\u6570\u306e\u7a93\u53e3\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3002<\/p>\n\n\n\n<p>\u4e3b\u6cbb\u533b\u3084\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u3001\u8a3a\u65ad\u306e\u610f\u5473\u3084\u4eca\u5f8c\u306e\u898b\u901a\u3057\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u3001\u3054\u5bb6\u65cf\u306e\u72b6\u6cc1\u306b\u5408\u308f\u305b\u305f\u8aac\u660e\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u652f\u63f4\u306b\u95a2\u3059\u308b\u793e\u4f1a\u8cc7\u6e90\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc<\/a>\u3084\u3001\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u4fdd\u5065\u30bb\u30f3\u30bf\u30fc\u3001\u96e3\u75c5\u76f8\u8ac7\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u3082\u7a93\u53e3\u306b\u306a\u308a\u307e\u3059\u3002\u969c\u5bb3\u306e\u3042\u308b\u304a\u5b50\u3055\u3093\u3078\u306e\u652f\u63f4\u5236\u5ea6\u306f\u3001<a href=\"https:\/\/www.cfa.go.jp\/policies\/shougaijishien\/\" target=\"_blank\" rel=\"noopener\">\u3053\u3069\u3082\u5bb6\u5ead\u5e81<\/a>\u306e\u60c5\u5831\u3082\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u306e\u3054\u76f8\u8ac7\u3067\u300c\u540c\u3058\u75c5\u540d\u306e\u4eba\u306b\u4f1a\u3063\u305f\u3053\u3068\u304c\u306a\u3044\u300d\u3068\u3044\u3046\u58f0\u3092\u4f55\u5ea6\u3082\u4f3a\u3044\u307e\u3059\u3002GABRA5\u3068\u3044\u3046\u907a\u4f1d\u5b50\u540d\u305d\u306e\u3082\u306e\u306fGABA-A\u53d7\u5bb9\u4f53\u306e\u7814\u7a76\u5206\u91ce\u3067\u306f\u4ee5\u524d\u304b\u3089\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001DEE79\u3068\u3044\u3046\u75c5\u578b\u3068\u3057\u3066\u306e\u5831\u544a\u306f\u307e\u3060\u65e5\u304c\u6d45\u304f\u3001\u56fd\u5185\u306e\u60a3\u8005\u4f1a\u30fb\u5bb6\u65cf\u4f1a\u306f\u9650\u3089\u308c\u3066\u3044\u308b\u306e\u304c\u73fe\u72b6\u3067\u3059\u3002\u65e5\u672c\u8a9e\u306e\u4e00\u6b21\u60c5\u5831\u304c\u5c11\u306a\u3044\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u516c\u7684\u6a5f\u95a2\u306e\u60c5\u5831\u3068\u3001\u4e3b\u6cbb\u533b\u3092\u901a\u3058\u305f\u5c02\u9580\u5bb6\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306e\u4e21\u65b9\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/eiee6-dravet-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c76\u578b\uff08Early Infantile Epileptic Encephalopathy 6: EIEE6\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c76\u578b\uff08EIEE6\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002SCN1A\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308a\u4e73\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e00\u822c\u7684\u306b\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u3068...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306b\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7570\u306a\u308b\u8907\u6570\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u3002\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u907a\u4f1d\u5b50SCN1A\u306e\u5909\u7570\u3067\u8d77\u3053\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/eiee6-dravet-syndrome-guide\/\">\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\uff08\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c76\u578b\uff09<\/a>\u306e\u3088\u3046\u306b\u3001\u540c\u3058\u300c\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u300d\u3067\u3082\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306b\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u3084\u5408\u4f75\u3057\u3084\u3059\u3044\u75c7\u72b6\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u65b9\u306f\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E6%A4%9C%E6%9F%BB%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>8. \u598a\u5a20\u4e2d\u306e\u691c\u67fb\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GABRA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u75c5\u6c17\u306f\u30011\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u8d77\u3053\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3059\u3002<\/strong>NIPT\u306e\u57fa\u672c\u691c\u67fb\u3067\u8abf\u3079\u308b21\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\u7570\u5e38\u3068\u306f\u3001\u691c\u51fa\u306e\u3057\u304f\u307f\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3082\u3042\u308a\u307e\u3059\u3002\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u306f\u3001\u6570\u767e\u7a2e\u985e\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3092\u5bfe\u8c61\u3068\u3059\u308b\u691c\u67fb\u9805\u76ee\u304c\u7528\u610f\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001GABRA5\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u306f\u691c\u67fb\u65bd\u8a2d\u30fb\u30d7\u30e9\u30f3\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/principles-of-nipt\/\">NIPT\u306e\u57fa\u672c\u7684\u306a\u3057\u304f\u307f<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/what-can-and-cannot-be-determined-in-prenatal-diagnosis\/\">\u51fa\u751f\u524d\u8a3a\u65ad\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p><strong>\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u304cGABRA5\u95a2\u9023\u306e\u7570\u5e38\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong>\u3082\u3046\u4e00\u3064\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\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\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/strong>\u967d\u6027\u6240\u898b\u3084\u6c17\u306b\u306a\u308b\u7d50\u679c\u304c\u51fa\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u8a3a\u65ad\u3092\u56fa\u3081\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001\u3053\u306e\u75c5\u6c17\u306b\u95a2\u3059\u308b\u56fd\u5185\u306e\u5b9f\u4f53\u9a13\u306e\u6295\u7a3f\u3092X\uff08\u65e7Twitter\uff09\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u8a72\u5f53\u3059\u308b\u6295\u7a3f\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002GABRA5\u3068\u3044\u3046\u907a\u4f1d\u5b50\u540d\u81ea\u4f53\u3092\u691c\u7d22\u3057\u3066\u3082\u3001\u75c7\u4f8b\u6570\u306e\u5c11\u306a\u3055\u304b\u3089\u4e00\u6b21\u60c5\u5831\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u304c\u516c\u958b\u3059\u308b\u7814\u7a76\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3001\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3001\u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u3001\u3053\u3069\u3082\u5bb6\u5ead\u5e81\u306a\u3069\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u907a\u4f1d\u6027\u75be\u60a3\u5168\u822c\u306e\u7d71\u8a08\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-statistics-probability\/\">\u77e5\u7684\u969c\u5bb3\u3068\u51fa\u751f\u524d\u691c\u67fb\u306b\u95a2\u3059\u308b\u8a18\u4e8b<\/a>\u3067\u3082\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u306e\u3067\u3001\u3042\u308f\u305b\u3066\u3054\u53c2\u7167\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\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>\u307e\u3068\u3081\uff1a\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>GABRA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u8133\u5185\u306e\u30d6\u30ec\u30fc\u30ad\u30b7\u30b9\u30c6\u30e0\uff08GABA-A\u53d7\u5bb9\u4f53\uff09\u306b\u4e0d\u5177\u5408\u304c\u751f\u3058\u3001\u8133\u306e\u904e\u5270\u8208\u596e\u3068\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u8d77\u3053\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002\u533b\u5b66\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u4e0a\u3067\u306fDEE79\uff0879\u578b\uff09\u306b\u5206\u985e\u3055\u308c\u3001\u540d\u79f0\u306e\u4f3c\u305fDEE92\uff08GABRB2\u907a\u4f1d\u5b50\uff09\u3084DEE19\uff08GABRA1\u907a\u4f1d\u5b50\uff09\u3068\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u75c7\u72b6\u306e\u51fa\u65b9\u3082\u7570\u306a\u308b\u3001\u307e\u3063\u305f\u304f\u5225\u306e\u75c5\u6c17\u3067\u3042\u308b\u3053\u3068\u3092\u307e\u305a\u62bc\u3055\u3048\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u751f\u5f8c2\u301c4\u304b\u6708\u9803\u304b\u3089\u59cb\u307e\u308b\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u307e\u305f\u306f\u75d9\u7e2e\u306a\u3069\u304c\u4e3b\u306a\u7279\u5fb4\u3067\u3059\u3002\u3066\u3093\u304b\u3093\u306f\u96e3\u6cbb\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u69d8\u3005\u306a\u304a\u85ac\u306e\u8abf\u6574\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u76ee\u6307\u305b\u307e\u3059\u3002\u539f\u56e0\u306e\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u3054\u4e21\u89aa\u306e\u305b\u3044\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3060\u3051\u3067\u306a\u304f\u3001\u30ea\u30cf\u30d3\u30ea\u3001\u6804\u990a\u7ba1\u7406\u3001\u611f\u67d3\u75c7\u4e88\u9632\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\u907a\u4f1d\u5b50\u8a3a\u65ad\u3068\u3044\u3046\u300c\u540d\u524d\u300d\u304c\u3064\u304f\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u7279\u6027\u306b\u5408\u3063\u305f\u533b\u7642\u3068\u30b1\u30a2\u306e\u8a08\u753b\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u4f55\u3088\u308a\u3082\u307e\u305a\u3001\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3078\u306e\u76f8\u8ac7\u3092\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\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><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>\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\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\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=\"GABRA5%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%80%8C92%E5%9E%8B%E3%80%8D%E3%81%A7%E3%81%99%E3%81%8B%E3%80%81%E3%81%9D%E3%82%8C%E3%81%A8%E3%82%82%E3%80%8C79%E5%9E%8B%E3%80%8D%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>GABRA5\u907a\u4f1d\u5b50\u306e\u75c5\u6c17\u306f\u300c92\u578b\u300d\u3067\u3059\u304b\u3001\u305d\u308c\u3068\u3082\u300c79\u578b\u300d\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7c73\u56fd\u306e\u533b\u5b66\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9OMIM\u3067\u306f\u3001GABRA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u75c5\u6c17\u306f\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c779\u578b\uff08DEE79\uff09\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u300292\u578b\uff08DEE92\uff09\u306fGABRB2\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u5225\u306e\u75c5\u6c17\u3067\u3059\u306e\u3067\u3001\u6df7\u540c\u3057\u306a\u3044\u3088\u3046\u3054\u6ce8\u610f\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"GABRA1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AB%E3%82%88%E3%82%8B%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>GABRA1\u907a\u4f1d\u5b50\u306b\u3088\u308b\u75c5\u6c17\u3068\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3069\u3061\u3089\u3082GABA-A\u53d7\u5bb9\u4f53\u306e\u300c\u30a2\u30eb\u30d5\u30a1\u300d\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u304c\u3001GABRA5\uff08\u30a2\u30eb\u30d5\u30a15\uff09\u306f\u4e3b\u306b\u6d77\u99ac\u306e\u6301\u7d9a\u7684\u306a\u6291\u5236\u3092\u62c5\u3044\u767a\u75c7\u306f\u751f\u5f8c2\u301c4\u304b\u6708\u9803\u304c\u591a\u3044\u306e\u306b\u5bfe\u3057\u3001GABRA1\uff08\u30a2\u30eb\u30d5\u30a11\uff09\u306f\u30b7\u30ca\u30d7\u30b9\u306e\u77ac\u9593\u7684\u306a\u6291\u5236\u3092\u62c5\u3044\u767a\u75c7\u306f\u751f\u5f8c8\u301c12\u304b\u6708\u9803\u304c\u591a\u3044\u306a\u3069\u3001\u62c5\u5f53\u3059\u308b\u5f79\u5272\u3068\u767a\u75c7\u6642\u671f\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C%E3%81%AF%E3%81%84%E3%81%A4%E9%A0%83%E3%81%8B%E3%82%89%E5%A7%8B%E3%81%BE%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306f\u3044\u3064\u9803\u304b\u3089\u59cb\u307e\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306e\u5831\u544a\u3067\u306f\u3001\u751f\u5f8c2\u304b\u6708\u304b\u30894\u304b\u6708\u9803\u3068\u3044\u3046\u4e73\u5150\u671f\u65e9\u671f\u306b\u767a\u4f5c\u304c\u59cb\u307e\u3063\u3066\u3044\u307e\u3059\u3002\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u767a\u4f5c\u3084\u5f37\u76f4\u767a\u4f5c\u3001\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\u306a\u3069\u8907\u6570\u306e\u30bf\u30a4\u30d7\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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%E6%A0%B9%E6%B2%BB%E3%81%A7%E3%81%8D%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002\u6839\u6cbb\u3067\u304d\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u6cbb\u7642\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3068\u3001\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u306a\u3069\u306e\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u306f\u3001\u3044\u305a\u308c\u3082\u3054\u4e21\u89aa\u306b\u306f\u539f\u56e0\u304c\u306a\u3044\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5177\u4f53\u7684\u306a\u518d\u767a\u30ea\u30b9\u30af\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\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%AE%E8%A6%8B%E9%80%9A%E3%81%97%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u767a\u9054\u306e\u898b\u901a\u3057\u306f\u3069\u306e\u304f\u3089\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u306f\u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u307f\u3089\u308c\u3001\u8a00\u8449\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u96e3\u3057\u3044\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u5831\u544a\u6570\u81ea\u4f53\u304c\u975e\u5e38\u306b\u5c11\u306a\u304f\u3001\u500b\u4eba\u5dee\u3082\u5927\u304d\u3044\u305f\u3081\u3001\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u306f\u4e3b\u6cbb\u533b\u3068\u500b\u5225\u306b\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p style=\"font-size:0.9em;color:#555;\"><strong>\u76e3\u4fee\uff1a\u5ca1 \u535a\u53f2\uff08\u304a\u304b 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encephalopathies\uff5cPMC\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\uff0f<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31056671\/\" target=\"_blank\" rel=\"noopener\">\u540c\u8ad6\u6587\uff5cPubMed\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\uff0f<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4382\" target=\"_blank\" rel=\"noopener\">\u5927\u7530\u539f\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5146\uff09\uff5c\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\uff0f<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc<\/a>\uff0f<a href=\"https:\/\/www.cfa.go.jp\/policies\/shougaijishien\/\" target=\"_blank\" rel=\"noopener\">\u969c\u5bb3\u5150\u652f\u63f4\u65bd\u7b56\uff5c\u3053\u3069\u3082\u5bb6\u5ead\u5e81<\/a><\/p>\n\n","protected":false},"excerpt":{"rendered":"GABRA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c7(DEE79)\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u3092\u516c\u7684\u60c5\u5831\u306b\u3082\u3068\u3065\u304d\u5c02\u9580\u5bb6\u76e3\u4fee\u3067\u89e3\u8aac\u3002GABRA1\u30fbGABRB2\u3068\u306e\u9055\u3044\u3082\u6574\u7406\u3057\u307e\u3059\u3002","protected":false},"author":129,"featured_media":122284,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-123264","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\/123264","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\/129"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=123264"}],"version-history":[{"count":4,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123264\/revisions"}],"predecessor-version":[{"id":134462,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123264\/revisions\/134462"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/122284"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=123264"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=123264"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=123264"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}