{"id":123214,"date":"2026-01-16T11:33:38","date_gmt":"2026-01-16T02:33:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123214"},"modified":"2026-03-31T12:40:21","modified_gmt":"2026-03-31T03:40:21","slug":"episodic-ataxia-type9-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/episodic-ataxia-type9-guide\/","title":{"rendered":"\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c79\u578b\uff08Episodic ataxia, type 9\uff09"},"content":{"rendered":"\n<p>\u533b\u5e2b\u304b\u3089\u300c\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c79\u578b\u300d\u3042\u308b\u3044\u306f\u300cEA9\u300d\u3068\u3044\u3046\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>\u304a\u5b50\u69d8\u3084\u3054\u81ea\u8eab\u304c\u3053\u306e\u8a3a\u65ad\u3092\u53d7\u3051\u3001\u9a5a\u304d\u3068\u3068\u3082\u306b\u3001\u3053\u308c\u304b\u3089\u3069\u306e\u3088\u3046\u306a\u751f\u6d3b\u306b\u306a\u308b\u306e\u304b\u3068\u3044\u3046\u5927\u304d\u306a\u4e0d\u5b89\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002\u7279\u306b\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5831\u544a\u6570\u304c\u9650\u3089\u308c\u3066\u3044\u308b\u5e0c\u5c11\u75be\u60a3\u306e\u4e00\u3064\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\u975e\u5e38\u306b\u5c11\u306a\u3044\u306e\u304c\u73fe\u72b6\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5177\u4f53\u7684\u306b\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u306e\u304b\u5206\u304b\u3089\u305a\u3001\u5b64\u72ec\u3092\u611f\u3058\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u65b9\u3082\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c79\u578b\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u4e00\u6642\u7684\u306b\u4f53\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u53d6\u308a\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3001\u3075\u3089\u3064\u3044\u305f\u308a\u3059\u308b\u767a\u4f5c\u3092\u7e70\u308a\u8fd4\u3059\u75c5\u6c17\u3067\u3059\u3002\u666e\u6bb5\u306f\u5143\u6c17\u306b\u904e\u3054\u305b\u308b\u3053\u3068\u3082\u591a\u3044\u305f\u3081\u3001\u5468\u56f2\u306b\u8f9b\u3055\u304c\u4f1d\u308f\u308a\u306b\u304f\u3044\u3068\u3044\u3046\u5074\u9762\u3082\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u7814\u7a76\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3001\u3069\u306e\u3088\u3046\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u75c7\u72b6\u304c\u8d77\u304d\u308b\u306e\u304b\u304c\u5c11\u3057\u305a\u3064\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/episodic-ataxia-type9-guide\/#3_%E7%99%BA%E4%BD%9C%E6%99%82%E3%81%AE%E5%AF%BE%E5%BF%9C\" >3. \u767a\u4f5c\u6642\u306e\u5bfe\u5fdc<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/episodic-ataxia-type9-guide\/#4_%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\" >4. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/episodic-ataxia-type9-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c7\u306f\u3001\u82f1\u8a9e\u3067Episodic Ataxia\u3068\u8868\u8a18\u3055\u308c\u3001\u533b\u7642\u73fe\u5834\u3067\u306f\u982d\u6587\u5b57\u3092\u3068\u3063\u3066EA\uff08\u30a4\u30fc\u30a8\u30fc\uff09\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u305d\u306e\u5f8c\u306b\u7d9a\u304f\u6570\u5b57\u306f\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u767a\u898b\u9806\u3084\u7a2e\u985e\u306b\u3088\u3063\u3066\u5206\u985e\u3055\u308c\u305f\u578b\u3092\u8868\u3057\u3066\u304a\u308a\u30019\u578b\u306f\u305d\u306e\u4e2d\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u5168\u4f53\u50cf\u3092\u7406\u89e3\u3059\u308b\u305f\u3081\u306b\u3001\u75c5\u540d\u3092\u5206\u89e3\u3057\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u6027\u3068\u306f\u3001\u75c7\u72b6\u304c\u305a\u3063\u3068\u7d9a\u3044\u3066\u3044\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u3042\u308b\u6642\u7a81\u7136\u73fe\u308c\u3066\u3001\u3057\u3070\u3089\u304f\u3059\u308b\u3068\u6d88\u3048\u308b\u3068\u3044\u3046\u6027\u8cea\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u904b\u52d5\u5931\u8abf\u3068\u306f\u3001\u624b\u8db3\u306e\u9ebb\u75fa\u306f\u306a\u3044\u306e\u306b\u3001\u7b4b\u8089\u3092\u5354\u8abf\u3055\u305b\u3066\u52d5\u304b\u3059\u3053\u3068\u304c\u96e3\u3057\u304f\u306a\u308a\u3001\u30d0\u30e9\u30f3\u30b9\u304c\u53d6\u308c\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u52d5\u304d\u304c\u304e\u3053\u3061\u306a\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u72b6\u614b\u306e\u3053\u3068\u3067\u3059\u3002\u9154\u3063\u6255\u3063\u3066\u5343\u9ce5\u8db3\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3092\u30a4\u30e1\u30fc\u30b8\u3059\u308b\u3068\u5206\u304b\u308a\u3084\u3059\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u666e\u6bb5\u306f\u666e\u901a\u306b\u52d5\u3051\u308b\u306e\u306b\u3001\u7a81\u7136\u30b9\u30a4\u30c3\u30c1\u304c\u5165\u3063\u305f\u3088\u3046\u306b\u3075\u3089\u3064\u304d\u3084\u3081\u307e\u3044\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u3001\u307e\u305f\u5143\u306e\u72b6\u614b\u306b\u623b\u308b\u3068\u3044\u3046\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u7e70\u308a\u8fd4\u3059\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c7\u306b\u306f1\u578b\u304b\u3089\u6570\u591a\u304f\u306e\u578b\u304c\u5b58\u5728\u3057\u307e\u3059\u304c\u3001\u305d\u306e\u4e2d\u3067\u30829\u578b\u306f\u3001SCN2A\uff08\u30a8\u30b9\u30b7\u30fc\u30a8\u30cc\u30c4\u30fc\u30a8\u30fc\uff09\u3068\u3044\u3046\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u4ed6\u306e\u795e\u7d4c\u75be\u60a3\u3068\u3082\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u975e\u5e38\u306b\u7a00\u306a\u75c5\u6c17\u3067\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u533b\u3067\u3042\u3063\u3066\u3082\u983b\u7e41\u306b\u51fa\u4f1a\u3046\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u9069\u5207\u306a\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u75c7\u72b6\u3092\u548c\u3089\u3052\u308b\u85ac\u304c\u898b\u3064\u304b\u308b\u53ef\u80fd\u6027\u3084\u3001\u751f\u6d3b\u306e\u4e2d\u3067\u907f\u3051\u308b\u3079\u304d\u8a98\u56e0\u304c\u660e\u78ba\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c79\u578b\u306e\u75c7\u72b6\u306f\u3001\u4eba\u306b\u3088\u3063\u3066\u91cd\u3055\u3084\u983b\u5ea6\u304c\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u6700\u5927\u306e\u7279\u5fb4\u306f\u300c\u767a\u4f5c\u7684\u306b\u73fe\u308c\u308b\u904b\u52d5\u5931\u8abf\u300d\u3067\u3059\u3002\u307e\u305f\u3001\u3053\u306e9\u578b\u306b\u306f\u3001\u4ed6\u306e\u578b\u3068\u306f\u5c11\u3057\u7570\u306a\u308b\u7279\u5fb4\u7684\u306a\u7d4c\u904e\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%81%8B%E5%8B%95%E5%A4%B1%E8%AA%BF%E3%81%AE%E7%99%BA%E4%BD%9C\"><\/span><strong>1. \u904b\u52d5\u5931\u8abf\u306e\u767a\u4f5c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u4e2d\u5fc3\u3068\u306a\u308b\u75c7\u72b6\u3067\u3059\u3002\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u6570\u5206\u304b\u3089\u6570\u6642\u9593\u3001\u6642\u306b\u306f\u6570\u65e5\u306b\u308f\u305f\u3063\u3066\u7d9a\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b69\u884c\u306e\u969c\u5bb3<br>\u307e\u3063\u3059\u3050\u6b69\u3051\u306a\u304f\u306a\u308b\u3001\u8db3\u304c\u3082\u3064\u308c\u308b\u3001\u3075\u3089\u3075\u3089\u3057\u3066\u8ee2\u3073\u305d\u3046\u306b\u306a\u308b\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u51fa\u307e\u3059\u3002\u3072\u3069\u3044\u5834\u5408\u306b\u306f\u3001\u652f\u3048\u304c\u306a\u3044\u3068\u7acb\u3066\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u306e\u4f4e\u4e0b<br>\u5ea7\u3063\u3066\u3044\u3066\u3082\u4f53\u304c\u30b0\u30e9\u30b0\u30e9\u3057\u305f\u308a\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u306e\u304c\u96e3\u3057\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u8a71\u3057\u306b\u304f\u3055<br>\u69cb\u97f3\u969c\u5bb3\u3068\u3044\u3063\u3066\u3001\u308d\u308c\u3064\u304c\u56de\u3089\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u8a71\u3057\u65b9\u304c\u305f\u3069\u305f\u3069\u3057\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u306e\u4f7f\u3044\u306b\u304f\u3055<br>\u5b57\u3092\u66f8\u304f\u3001\u7bb8\u3092\u4f7f\u3046\u3001\u30dc\u30bf\u30f3\u3092\u7559\u3081\u308b\u3068\u3044\u3063\u305f\u7d30\u304b\u3044\u52d5\u4f5c\u304c\u304e\u3053\u3061\u306a\u304f\u306a\u308a\u3001\u624b\u304c\u9707\u3048\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%82%81%E3%81%BE%E3%81%84%E3%81%A8%E7%9C%BC%E6%8C%AF\"><\/span><strong>2. \u3081\u307e\u3044\u3068\u773c\u632f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u904b\u52d5\u5931\u8abf\u3068\u30bb\u30c3\u30c8\u3067\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u3001\u3081\u307e\u3044\u3084\u76ee\u306e\u7570\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5929\u4e95\u304c\u3050\u308b\u3050\u308b\u56de\u308b\u3088\u3046\u306a\u56de\u8ee2\u6027\u306e\u3081\u307e\u3044\u3092\u611f\u3058\u305f\u308a\u3001\u4e57\u308a\u7269\u9154\u3044\u306e\u3088\u3046\u306a\u6c17\u6301\u3061\u60aa\u3055\u3092\u4f34\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u773c\u632f\u3068\u3044\u3063\u3066\u3001\u672c\u4eba\u306e\u610f\u601d\u3068\u306f\u95a2\u4fc2\u306a\u304f\u773c\u7403\u304c\u5c0f\u523b\u307f\u306b\u63fa\u308c\u308b\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u7269\u304c\u63fa\u308c\u3066\u898b\u3048\u305f\u308a\u3001\u8996\u70b9\u304c\u5b9a\u307e\u308a\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%99%BA%E4%BD%9C%E3%81%AB%E4%BC%B4%E3%81%86%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u767a\u4f5c\u306b\u4f34\u3046\u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u4e2d\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u982d\u75db\uff08\u7247\u982d\u75db\u306e\u3088\u3046\u306a\u30ba\u30ad\u30ba\u30ad\u3059\u308b\u75db\u307f\uff09<\/li>\n\n\n\n<li>\u5410\u304d\u6c17\u3084\u5614\u5410<\/li>\n\n\n\n<li>\u8033\u9cf4\u308a<\/li>\n\n\n\n<li>\u5168\u8eab\u306e\u8131\u529b\u611f<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_9%E5%9E%8B%E3%81%AB%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E7%B5%8C%E9%81%8E%EF%BC%9A%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C%E3%81%AE%E6%97%A2%E5%BE%80\"><\/span><strong>4. 9\u578b\u306b\u7279\u5fb4\u7684\u306a\u7d4c\u904e\uff1a\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u65e2\u5f80<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c79\u578b\u306e\u5927\u304d\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001\u4e73\u5150\u671f\uff08\u751f\u307e\u308c\u3066\u304b\u30891\u6b73\u304f\u3089\u3044\u307e\u3067\uff09\u306b\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3057\u305f\u7d4c\u9a13\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u304c\u591a\u3044\u3053\u3068\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u306b\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u3042\u308a\u3001\u305d\u308c\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u843d\u3061\u7740\u3044\u3066\u6d88\u5931\u3057\u307e\u3059\u3002\u305d\u3057\u3066\u3001\u305d\u306e\u5f8c\u3057\u3070\u3089\u304f\u3057\u3066\u304b\u3089\u3001\u3042\u308b\u3044\u306f\u5165\u308c\u66ff\u308f\u308b\u3088\u3046\u306b\u3057\u3066\u3001\u5e7c\u5150\u671f\u3084\u5b66\u7ae5\u671f\u306b\u306a\u3063\u3066\u304b\u3089\u4eca\u56de\u306e\u3088\u3046\u306a\u904b\u52d5\u5931\u8abf\u306e\u767a\u4f5c\u304c\u73fe\u308c\u59cb\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3061\u308d\u3093\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u3053\u306e\u7d4c\u904e\u304c\u5f53\u3066\u306f\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u904e\u53bb\u306e\u3066\u3093\u304b\u3093\u306e\u75c5\u6b74\u306f\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E7%99%BA%E4%BD%9C%E3%81%AE%E9%96%93%EF%BC%88%E9%96%93%E6%AC%A0%E6%9C%9F%EF%BC%89%E3%81%AE%E7%8A%B6%E6%85%8B\"><\/span><strong>5. \u767a\u4f5c\u306e\u9593\uff08\u9593\u6b20\u671f\uff09\u306e\u72b6\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u304c\u8d77\u304d\u3066\u3044\u306a\u3044\u6642\u306f\u3001\u75c7\u72b6\u304c\u5168\u304f\u306a\u304f\u306a\u308a\u3001\u5065\u5eb7\u306a\u4eba\u3068\u540c\u3058\u3088\u3046\u306b\u751f\u6d3b\u3067\u304d\u308b\u65b9\u3082\u3044\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u767a\u4f5c\u304c\u306a\u3044\u6642\u3067\u3082\u3001\u8efd\u3044\u3075\u3089\u3064\u304d\u3084\u773c\u632f\u304c\u6b8b\u308b\u65b9\u3082\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u6162\u6027\u7684\u306a\u982d\u75db\u6301\u3061\u3067\u3042\u308b\u65b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span><strong>\u539f\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u306a\u305c\u3001\u7a81\u7136\u30d0\u30e9\u30f3\u30b9\u304c\u53d6\u308c\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u306b\u3066\u3093\u304b\u3093\u304c\u3042\u3063\u305f\u308a\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u305d\u306e\u539f\u56e0\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306b\u3042\u308b\u300c\u96fb\u6c17\u4fe1\u53f7\u306e\u30b9\u30a4\u30c3\u30c1\u300d\u306e\u4e0d\u5177\u5408\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"SCN2A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\"><\/span><strong>SCN2A\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c79\u578b\u306e\u539f\u56e0\u306f\u3001\u7b2c2\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bSCN2A\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u304c\u60c5\u5831\u3092\u4f1d\u3048\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u300c\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u300d\u3068\u3044\u3046\u90e8\u54c1\u306e\u8a2d\u8a08\u56f3\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eba\u9593\u306e\u8133\u3084\u795e\u7d4c\u306f\u3001\u96fb\u6c17\u4fe1\u53f7\u3092\u4f7f\u3063\u3066\u60c5\u5831\u3092\u3084\u308a\u53d6\u308a\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u96fb\u6c17\u4fe1\u53f7\u3092\u751f\u307f\u51fa\u3059\u305f\u3081\u306b\u3001\u7d30\u80de\u306e\u5916\u306b\u3042\u308b\u30ca\u30c8\u30ea\u30a6\u30e0\u30a4\u30aa\u30f3\u3092\u7d30\u80de\u306e\u4e2d\u306b\u53d6\u308a\u8fbc\u3080\u305f\u3081\u306e\u5c0f\u3055\u306a\u901a\u308a\u9053\u3001\u3064\u307e\u308a\u30c9\u30a2\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u3067\u3059\u3002<\/p>\n\n\n\n<p>SCN2A\u907a\u4f1d\u5b50\u306f\u3001\u4e3b\u306b\u8133\u306e\u4e2d\u306b\u5b58\u5728\u3059\u308bNav1.2\u3068\u3044\u3046\u540d\u524d\u306e\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%81%E3%83%A3%E3%83%8D%E3%83%AB%E7%97%85%EF%BC%88%E3%83%81%E3%83%A3%E3%83%8D%E3%83%AB%E3%82%AA%E3%83%91%E3%83%81%E3%83%BC%EF%BC%89\"><\/span><strong>\u30c1\u30e3\u30cd\u30eb\u75c5\uff08\u30c1\u30e3\u30cd\u30eb\u30aa\u30d1\u30c1\u30fc\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u3001\u3053\u306e\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u5f62\u3084\u50cd\u304d\u304c\u5c11\u3057\u5909\u308f\u3063\u3066\u3057\u307e\u3046\u3068\u3001\u96fb\u6c17\u4fe1\u53f7\u306e\u8abf\u7bc0\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f8b\u3048\u3070\u3001\u30c9\u30a2\u304c\u958b\u304d\u3084\u3059\u304f\u306a\u308a\u3059\u304e\u3066\u96fb\u6c17\u304c\u6d41\u308c\u3059\u304e\u3066\u3057\u307e\u3063\u305f\u308a\u3001\u9006\u306b\u958b\u304d\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u3001\u3053\u306e\u96fb\u6c17\u4fe1\u53f7\u306e\u4e71\u308c\u304c\u300c\u3066\u3093\u304b\u3093\u767a\u4f5c\u300d\u3068\u3057\u3066\u73fe\u308c\u3084\u3059\u3044\u6642\u671f\u3067\u3059\u3002\u305d\u3057\u3066\u8133\u304c\u6210\u9577\u3057\u3066\u795e\u7d4c\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304c\u5909\u308f\u3063\u3066\u3044\u304f\u306b\u3064\u308c\u3066\u3001\u5f71\u97ff\u306e\u51fa\u65b9\u304c\u5909\u308f\u308a\u3001\u5c0f\u8133\u3068\u3044\u3046\u30d0\u30e9\u30f3\u30b9\u3092\u3064\u304b\u3055\u3069\u308b\u90e8\u5206\u306e\u50cd\u304d\u304c\u4e00\u6642\u7684\u306b\u4e71\u308c\u308b\u3053\u3068\u3067\u300c\u904b\u52d5\u5931\u8abf\u300d\u3068\u3057\u3066\u73fe\u308c\u308b\u3088\u3046\u306b\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u304d\u308b\u75c5\u6c17\u3092\u7dcf\u79f0\u3057\u3066\u300c\u30c1\u30e3\u30cd\u30eb\u75c5\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AA%98%E5%9B%A0%EF%BC%88%E3%83%88%E3%83%AA%E3%82%AC%E3%83%BC%EF%BC%89%E3%81%AE%E5%AD%98%E5%9C%A8\"><\/span><strong>\u8a98\u56e0\uff08\u30c8\u30ea\u30ac\u30fc\uff09\u306e\u5b58\u5728<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30c1\u30e3\u30cd\u30eb\u75c5\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u666e\u6bb5\u306f\u306a\u3093\u3068\u304b\u30d0\u30e9\u30f3\u30b9\u3092\u4fdd\u3063\u3066\u3044\u3066\u3082\u3001\u4f55\u3089\u304b\u306e\u30b9\u30c8\u30ec\u30b9\u304c\u304b\u304b\u308b\u3068\u6a5f\u80fd\u304c\u4fdd\u3066\u306a\u304f\u306a\u308a\u3001\u767a\u4f5c\u304c\u8d77\u304d\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c7\u5168\u822c\u306b\u304a\u3044\u3066\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u767a\u4f5c\u306e\u5f15\u304d\u91d1\uff08\u30c8\u30ea\u30ac\u30fc\uff09\u306b\u306a\u308a\u3084\u3059\u3044\u3068\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7cbe\u795e\u7684\u306a\u30b9\u30c8\u30ec\u30b9\uff08\u7dca\u5f35\u3001\u4e0d\u5b89\u3001\u8208\u596e\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u8eab\u4f53\u7684\u306a\u75b2\u52b4\u3001\u7761\u7720\u4e0d\u8db3<\/li>\n\n\n\n<li>\u6025\u306a\u904b\u52d5\u3084\u52d5\u4f5c<\/li>\n\n\n\n<li>\u767a\u71b1\u3084\u4f53\u8abf\u4e0d\u826f<\/li>\n\n\n\n<li>\u30ab\u30d5\u30a7\u30a4\u30f3\u3084\u30a2\u30eb\u30b3\u30fc\u30eb\u306e\u6442\u53d6<\/li>\n\n\n\n<li>\u6c17\u5727\u3084\u6c17\u6e29\u306e\u5909\u5316<\/li>\n<\/ul>\n\n\n\n<p>9\u578b\u306b\u304a\u3044\u3066\u4f55\u304c\u7279\u5b9a\u306e\u30c8\u30ea\u30ac\u30fc\u306b\u306a\u308b\u304b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u81ea\u5206\u306e\u767a\u4f5c\u304c\u3069\u306e\u3088\u3046\u306a\u6642\u306b\u8d77\u304d\u3084\u3059\u3044\u304b\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u4e88\u9632\u306e\u305f\u3081\u306b\u975e\u5e38\u306b\u91cd\u8981\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%AE%E3%81%97%E3%81%8F%E3%81%BF\"><\/span><strong>\u907a\u4f1d\u306e\u3057\u304f\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u300c\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u4ee5\u524d\u306e\u512a\u6027\u907a\u4f1d\uff09\u300d\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u300150\u30d1\u30fc\u30bb\u30f3\u30c8\u306e\u78ba\u7387\u3067\u304a\u5b50\u3055\u3093\u306b\u4f1d\u308f\u308b\u3068\u3044\u3046\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u5fc5\u305a\u3057\u3082\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3050\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u4e21\u89aa\u306f\u5065\u5eb7\u3067\u907a\u4f1d\u5b50\u306b\u3082\u7570\u5e38\u304c\u306a\u304f\u3001\u304a\u5b50\u3055\u3093\u306e\u4ee3\u3067\u521d\u3081\u3066\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u8d77\u304d\u305f\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\u300d\u306b\u3088\u308b\u30b1\u30fc\u30b9\u3082\u591a\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u8ab0\u306e\u305b\u3044\u3067\u3082\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<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/32470853_s-2.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121545\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c7\u306f\u3001\u75c7\u72b6\u3060\u3051\u3067\u306f\u8a3a\u65ad\u304c\u96e3\u3057\u304f\u3001\u4ed6\u306e\u75c5\u6c17\u3067\u306f\u306a\u3044\u3053\u3068\u3092\u78ba\u8a8d\u3059\u308b\u9664\u5916\u8a3a\u65ad\u3068\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%95%8F%E8%A8%BA%E3%81%A8%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E8%A8%BA%E5%AF%9F\"><\/span><strong>1. \u554f\u8a3a\u3068\u795e\u7d4c\u5b66\u7684\u8a3a\u5bdf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u3001\u3044\u3064\u304b\u3089\u3001\u3069\u306e\u304f\u3089\u3044\u7d9a\u304d\u3001\u4f55\u304c\u304d\u3063\u304b\u3051\u3067\u8d77\u304d\u308b\u304b\u3092\u8a73\u3057\u304f\u805e\u304d\u53d6\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u4ee5\u4e0b\u306e\u70b9\u306f\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u7684\u306b\u7e70\u308a\u8fd4\u3057\u3066\u3044\u308b\u3053\u3068<\/li>\n\n\n\n<li>\u767a\u4f5c\u304c\u306a\u3044\u6642\u306f\u6bd4\u8f03\u7684\u5143\u6c17\u3067\u3042\u308b\u3053\u3068<\/li>\n\n\n\n<li>\u8d64\u3061\u3083\u3093\u306e\u9803\u306b\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u3042\u3063\u305f\u304b\u3069\u3046\u304b<\/li>\n\n\n\n<li>\u5bb6\u65cf\u306b\u4f3c\u305f\u3088\u3046\u306a\u75c7\u72b6\u306e\u4eba\u304c\u3044\u308b\u304b\u3069\u3046\u304b\uff08\u982d\u75db\u6301\u3061\u3084\u3081\u307e\u3044\u6301\u3061\u306a\u3069\u3082\u542b\u3080\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u8a3a\u5bdf\u3067\u306f\u3001\u76ee\u306e\u52d5\u304d\uff08\u773c\u632f\u306e\u6709\u7121\uff09\u3084\u3001\u6b69\u304d\u65b9\u3001\u624b\u8db3\u306e\u52d5\u304d\u306e\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%E6%A4%9C%E6%9F%BB%EF%BC%89\"><\/span><strong>2. \u753b\u50cf\u691c\u67fb\uff08MRI\u691c\u67fb\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u306eMRI\u691c\u67fb\u3092\u884c\u3044\u3001\u5c0f\u8133\u3084\u8133\u5e79\u3068\u3044\u3063\u305f\u30d0\u30e9\u30f3\u30b9\u306b\u95a2\u308f\u308b\u90e8\u5206\u306b\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c7\u3067\u306f\u3001\u753b\u50cf\u4e0a\u306f\u660e\u3089\u304b\u306a\u7570\u5e38\u304c\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u5c0f\u8133\u304c\u5c11\u3057\u5c0f\u3055\u304f\u306a\u3063\u3066\u3044\u308b\u5c0f\u8133\u840e\u7e2e\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u8133\u816b\u760d\u3084\u8133\u6897\u585e\u306a\u3069\u306e\u4ed6\u306e\u75c5\u6c17\u3092\u5426\u5b9a\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u8133\u6ce2\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306e\u5408\u4f75\u304c\u306a\u3044\u304b\u3001\u3042\u308b\u3044\u306f\u610f\u8b58\u3092\u5931\u3046\u3088\u3046\u306a\u767a\u4f5c\u304c\u3066\u3093\u304b\u3093\u306b\u3088\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u904e\u53bb\u306b\u3066\u3093\u304b\u3093\u304c\u3042\u3063\u305f\u5834\u5408\u3067\u3082\u3001\u73fe\u5728\u306f\u8133\u6ce2\u304c\u6b63\u5e38\u5316\u3057\u3066\u3044\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=\"4_%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>4. \u8840\u6db2\u691c\u67fb\u3068\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u8840\u6db2\u691c\u67fb\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6700\u3082\u78ba\u5b9f\u306a\u65b9\u6cd5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8840\u6db2\u304b\u3089DNA\u3092\u53d6\u308a\u51fa\u3057\u3001SCN2A\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001SCN2A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c7\u3060\u3051\u3067\u306a\u304f\u3001\u826f\u6027\u306e\u3066\u3093\u304b\u3093\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u307e\u3067\u3001\u975e\u5e38\u306b\u5e45\u5e83\u3044\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5909\u7570\u304c\u898b\u3064\u304b\u3063\u305f\u3068\u3057\u3066\u3082\u3001\u305d\u308c\u304c\u73fe\u5728\u306e\u75c7\u72b6\u3068\u3069\u3046\u7d50\u3073\u3064\u3044\u3066\u3044\u308b\u304b\u306f\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u614e\u91cd\u306a\u5224\u65ad\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u767a\u4f5c\u306e\u56de\u6570\u3092\u6e1b\u3089\u3057\u305f\u308a\u3001\u75c7\u72b6\u3092\u8efd\u304f\u3057\u305f\u308a\u3059\u308b\u305f\u3081\u306e\u85ac\u7269\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u306e\u4e2d\u3067\u306e\u5de5\u592b\u304c\u6cbb\u7642\u306e\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95\"><\/span><strong>1. \u85ac\u7269\u7642\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c7\u306b\u5bfe\u3057\u3066\u3001\u52b9\u679c\u304c\u671f\u5f85\u3067\u304d\u308b\u304a\u85ac\u304c\u3044\u304f\u3064\u304b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30bb\u30bf\u30be\u30e9\u30df\u30c9\uff08\u30c0\u30a4\u30a2\u30e2\u30c3\u30af\u30b9\u306a\u3069\uff09<br>\u3053\u308c\u306f\u3082\u3068\u3082\u3068\u5229\u5c3f\u5264\u3084\u7dd1\u5185\u969c\u306e\u85ac\u3068\u3057\u3066\u4f7f\u308f\u308c\u3066\u3044\u308b\u3082\u306e\u3067\u3059\u304c\u3001\u8133\u5185\u306epH\uff08\u9178\u6027\u30fb\u30a2\u30eb\u30ab\u30ea\u6027\u306e\u30d0\u30e9\u30f3\u30b9\uff09\u3092\u8abf\u6574\u3059\u308b\u4f5c\u7528\u304c\u3042\u308a\u3001\u591a\u304f\u306e\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c7\u306e\u60a3\u8005\u3055\u3093\u306b\u52b9\u679c\u304c\u3042\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u30029\u578b\u306e\u60a3\u8005\u3055\u3093\u3067\u3082\u3001\u3053\u306e\u85ac\u306b\u3088\u3063\u3066\u767a\u4f5c\u304c\u6e1b\u3063\u305f\u308a\u8efd\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u30b1\u30fc\u30b9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u906e\u65ad\u85ac<br>SCN2A\u907a\u4f1d\u5b50\u306f\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306b\u95a2\u4fc2\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u305d\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308b\u3066\u3093\u304b\u3093\u306e\u304a\u85ac\uff08\u30d5\u30a7\u30cb\u30c8\u30a4\u30f3\u3001\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\u3001\u30e9\u30b3\u30b5\u30df\u30c9\u306a\u3069\uff09\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3069\u306e\u85ac\u304c\u5408\u3046\u304b\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306e\u30bf\u30a4\u30d7\uff08\u6a5f\u80fd\u304c\u4ea2\u9032\u3057\u3066\u3044\u308b\u306e\u304b\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u306e\u304b\uff09\u3084\u500b\u4eba\u306e\u4f53\u8cea\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u305f\u3081\u3001\u533b\u5e2b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u8abf\u6574\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u85ac\u306b\u306f\u526f\u4f5c\u7528\u3082\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u8840\u6db2\u691c\u67fb\u306a\u3069\u3067\u4f53\u8abf\u3092\u78ba\u8a8d\u3057\u306a\u304c\u3089\u670d\u7528\u3092\u7d9a\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%AA%98%E5%9B%A0%EF%BC%88%E3%83%88%E3%83%AA%E3%82%AC%E3%83%BC%EF%BC%89%E3%81%AE%E5%9B%9E%E9%81%BF\"><\/span><strong>2. \u8a98\u56e0\uff08\u30c8\u30ea\u30ac\u30fc\uff09\u306e\u56de\u907f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u85ac\u3068\u540c\u3058\u304f\u3089\u3044\u5927\u5207\u306a\u306e\u304c\u3001\u767a\u4f5c\u306e\u5f15\u304d\u91d1\u3068\u306a\u308b\u72b6\u6cc1\u3092\u907f\u3051\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u3005\u306e\u751f\u6d3b\u8a18\u9332\uff08\u767a\u4f5c\u65e5\u8a18\uff09\u3092\u3064\u3051\u3001\u3069\u3093\u306a\u6642\u306b\u767a\u4f5c\u304c\u8d77\u304d\u305f\u304b\u3092\u8a18\u9332\u3059\u308b\u3053\u3068\u3092\u304a\u52e7\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5bdd\u4e0d\u8db3\u306e\u7fcc\u65e5\u306b\u8d77\u304d\u305f\u300d\u300c\u30c6\u30b9\u30c8\u524d\u306e\u7dca\u5f35\u3067\u8d77\u304d\u305f\u300d\u300c\u4f53\u80b2\u306e\u6388\u696d\u306e\u5f8c\u306b\u8d77\u304d\u305f\u300d\u306a\u3069\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u898b\u3048\u3066\u304f\u308c\u3070\u3001\u5bfe\u7b56\u304c\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7121\u7406\u306e\u306a\u3044\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u3092\u7d44\u307f\u3001\u5341\u5206\u306a\u7761\u7720\u3092\u3068\u308a\u3001\u30b9\u30c8\u30ec\u30b9\u3092\u6e9c\u3081\u3059\u304e\u306a\u3044\u751f\u6d3b\u3092\u5fc3\u304c\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%99%BA%E4%BD%9C%E6%99%82%E3%81%AE%E5%AF%BE%E5%BF%9C\"><\/span><strong>3. \u767a\u4f5c\u6642\u306e\u5bfe\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3082\u3057\u767a\u4f5c\u304c\u8d77\u304d\u3066\u3057\u307e\u3063\u305f\u5834\u5408\u306f\u3001\u614c\u3066\u305a\u306b\u5b89\u5168\u306a\u5834\u6240\u3067\u5b89\u9759\u306b\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8ee2\u5012\u306b\u3088\u308b\u602a\u6211\u3092\u9632\u3050\u305f\u3081\u3001\u3059\u3050\u306b\u3057\u3083\u304c\u3080\u304b\u3001\u6a2a\u306b\u306a\u308c\u308b\u5834\u6240\u3078\u79fb\u52d5\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5f37\u3044\u5149\u3084\u5927\u304d\u306a\u97f3\u306a\u3069\u306e\u523a\u6fc0\u3092\u907f\u3051\u3001\u843d\u3061\u7740\u3051\u308b\u74b0\u5883\u3067\u75c7\u72b6\u304c\u6cbb\u307e\u308b\u306e\u3092\u5f85\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b66\u6821\u3084\u8077\u5834\u306a\u3069\u3001\u5468\u56f2\u306e\u4eba\u306b\u300c\u767a\u4f5c\u304c\u8d77\u304d\u305f\u3089\u9759\u304b\u306b\u4f11\u307e\u305b\u3066\u307b\u3057\u3044\u300d\u3068\u3042\u3089\u304b\u3058\u3081\u4f1d\u3048\u3066\u304a\u304f\u3053\u3068\u3082\u3001\u5b89\u5fc3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>4. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u304c\u306a\u3044\u6642\u306b\u3082\u3075\u3089\u3064\u304d\u3084\u30d0\u30e9\u30f3\u30b9\u306e\u60aa\u3055\u304c\u6b8b\u308b\u5834\u5408\u306f\u3001\u7406\u5b66\u7642\u6cd5\u306a\u3069\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u8ee2\u3073\u306b\u304f\u3044\u4f53\u306e\u4f7f\u3044\u65b9\u3092\u8eab\u306b\u3064\u3051\u305f\u308a\u3001\u4f53\u5e79\u3092\u935b\u3048\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c79\u578b\uff08EA9\uff09\u306b\u3064\u3044\u3066\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c5\u6c17\u306e\u672c\u8cea\uff1a<\/strong> SCN2A\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308a\u3001\u8133\u306e\u96fb\u6c17\u4fe1\u53f7\u306e\u8abf\u7bc0\u304c\u4e00\u6642\u7684\u306b\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308b\u300c\u30c1\u30e3\u30cd\u30eb\u75c5\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6\uff1a<\/strong> \u7a81\u7136\u306e\u3075\u3089\u3064\u304d\u3001\u3081\u307e\u3044\u3001\u308d\u308c\u3064\u304c\u56de\u3089\u306a\u3044\u306a\u3069\u306e\u904b\u52d5\u5931\u8abf\u767a\u4f5c\u3092\u7e70\u308a\u8fd4\u3057\u307e\u3059\u3002\u4e73\u5150\u671f\u306e\u3066\u3093\u304b\u3093\u65e2\u5f80\u304c\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u3082\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0\uff1a<\/strong> \u8133\u306e\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u4e0d\u5177\u5408\u3067\u3059\u3002\u30b9\u30c8\u30ec\u30b9\u3084\u75b2\u52b4\u304c\u5f15\u304d\u91d1\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642\uff1a<\/strong> \u30a2\u30bb\u30bf\u30be\u30e9\u30df\u30c9\u3084\u6297\u3066\u3093\u304b\u3093\u85ac\u306a\u3069\u304c\u75c7\u72b6\u306e\u7de9\u548c\u306b\u5f79\u7acb\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u5de5\u592b\uff1a<\/strong> \u81ea\u5206\u306e\u767a\u4f5c\u306e\u30c8\u30ea\u30ac\u30fc\u3092\u77e5\u308a\u3001\u7121\u7406\u306e\u306a\u3044\u751f\u6d3b\u30ea\u30ba\u30e0\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u6700\u5927\u306e\u4e88\u9632\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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","protected":false},"excerpt":{"rendered":"\u533b\u5e2b\u304b\u3089\u300c\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c79\u578b\u300d\u3042\u308b\u3044\u306f&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/episodic-ataxia-type9-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121513,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-123214","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\/123214","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\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=123214"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123214\/revisions"}],"predecessor-version":[{"id":126265,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123214\/revisions\/126265"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121513"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=123214"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=123214"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=123214"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}