{"id":7930,"date":"2025-09-25T09:35:20","date_gmt":"2025-09-25T09:35:20","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7930"},"modified":"2026-09-24T15:28:05","modified_gmt":"2026-09-24T15:28:05","slug":"arx-gene","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/ja\/arx-gene\/","title":{"rendered":"ARX\u4e16\u4ee3"},"content":{"rendered":"<p class=\"wp-block-paragraph\">\u907a\u4f1d\u5b50 <em>ARX<\/em> (Aristaless\u95a2\u9023\u30db\u30e1\u30aa\u30dc\u30c3\u30af\u30b9)\u3001\u67d3\u8272\u4f53\u4e0a\u306b\u4f4d\u7f6e<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u5206\u5b50\u57fa\u76e4\u3068\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">ARX \u30bf\u30f3\u30d1\u30af\u8cea\u306b\u306f\u3001DNA \u7d50\u5408\u3068\u6a19\u7684\u907a\u4f1d\u5b50\u306e\u5236\u5fa1\u306b\u4e0d\u53ef\u6b20\u306a\u30db\u30e1\u30aa\u30c9\u30e1\u30a4\u30f3 \u30c9\u30e1\u30a4\u30f3\u304c N \u672b\u7aef\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u305d\u306e\u4e2d\u592e\u9818\u57df\u306b\u306f\u30a2\u30e9\u30cb\u30f3\u30ea\u30d4\u30fc\u30c8 (\u30dd\u30ea\u30a2\u30e9\u30cb\u30f3\u30ea\u30d4\u30fc\u30c8) \u306e\u30c9\u30e1\u30a4\u30f3\u304c\u3042\u308a\u3001\u305d\u306e\u901a\u5e38\u306e\u9577\u3055\u306f 10 \uff5e 13 \u30ea\u30d4\u30fc\u30c8\u306e\u7bc4\u56f2\u3067\u3059\u3002\u306e\u7a81\u7136\u5909\u7570 <em>ARX<\/em> \u305d\u308c\u3089\u306b\u306f\u4e3b\u306b\u6b21\u306e 2 \u3064\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6d3b\u6027\u3092\u4f4e\u4e0b\u307e\u305f\u306f\u9664\u53bb\u3059\u308b\u3001\u6b20\u5931\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u633f\u5165\u3001\u307e\u305f\u306f\u30ca\u30f3\u30bb\u30f3\u30b9\u7a81\u7136\u5909\u7570\u306a\u3069\u306e\u6a5f\u80fd\u55aa\u5931\u7a81\u7136\u5909\u7570\u3002 <\/li>\n\n\n\n<li>\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\u3001\u7279\u306b\u30dd\u30ea\u30a2\u30e9\u30cb\u30f3\u306e\u30ea\u30d4\u30fc\u30c8\u6570\uff08\u4f8b\u3048\u3070\u300116 \u56de\u4ee5\u4e0a\u306e\u30ea\u30d4\u30fc\u30c8\uff09\u3092\u5897\u52a0\u3055\u305b\u308b\u5909\u7570\u3067\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4e09\u6b21\u5143\u7acb\u4f53\u69cb\u9020\u304a\u3088\u3073\u88dc\u56e0\u5b50\u3068\u76f8\u4e92\u4f5c\u7528\u3059\u308b\u80fd\u529b\u3092\u5909\u5316\u3055\u305b\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u5f8c\u8005\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u3001\u7279\u306b\u30d1\u30fc\u30c6\u30a3\u30f3\u30c8\u30f3\u75c7\u5019\u7fa4\u304a\u3088\u3073 X \u9023\u9396\u5bb6\u65cf\u6027\u6ed1\u8133\u75c7\u306b\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u30dd\u30ea\u30a2\u30e9\u30cb\u30f3\u53cd\u5fa9\u306e\u904e\u5270\u5b58\u5728\u306b\u3088\u308a\u30cb\u30e5\u30fc\u30ed\u30f3\u306e\u79fb\u52d5\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u306e\u5236\u5fa1\u304c\u5909\u5316\u3057\u3001\u76ae\u8cea\u69cb\u9020\u306e\u7834\u58ca\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u81e8\u5e8a\u30b9\u30da\u30af\u30c8\u30eb: \u6ed1\u8133\u75c7\u304b\u3089\u65b0\u751f\u5150\u3066\u3093\u304b\u3093\u307e\u3067<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b\u306e\u30b9\u30da\u30af\u30c8\u30eb <em>ARX<\/em> \u305d\u308c\u306f\u795e\u7d4c\u907a\u4f1d\u5b66\u306e\u4e2d\u3067\u6700\u3082\u5e83\u7bc4\u3067\u6700\u3082\u8907\u96d1\u306a\u3082\u306e\u306e 1 \u3064\u3067\u3059\u3002\u3053\u308c\u306f\u5f53\u521d\u3001X \u9023\u9396\u6027\u5bb6\u65cf\u6027\u6ed1\u8133\u75c7 (\u751f\u6b96\u5668\u7570\u5e38\u3092\u4f34\u3046 X \u9023\u9396\u6027\u6ed1\u8133\u75c7\u3001XLAG) \u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u3068\u3057\u3066\u8a18\u8f09\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u305d\u306e\u81e8\u5e8a\u75c7\u72b6\u306e\u7bc4\u56f2\u306f\u8efd\u5ea6\u306e\u969c\u5bb3\u304b\u3089\u81f4\u547d\u7684\u306a\u3082\u306e\u307e\u3067\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002 <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u306e <strong>X\u9023\u9396\u5bb6\u65cf\u6027\u6ed1\u8133\u75c7<\/strong> \u3053\u308c\u306f\u3001\u8133\u306e\u3072\u3060\uff08\u6ed1\u8133\u75c7\uff09\u304c\u307b\u307c\u5b8c\u5168\u306b\u6b20\u5982\u3057\u3001\u76ae\u8cea\u304c\u539a\u304f\u6ed1\u3089\u304b\u3067\u3001\u751f\u6b96\u5668\u306e\u7570\u5e38\uff08\u7cbe\u5de3\u5f62\u6210\u4e0d\u5168\u3001\u30df\u30e5\u30e9\u30fc\u7ba1\u306e\u6b20\u5982\uff09\u304a\u3088\u3073\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u9032\u5316\u3092\u4f34\u3046\u3053\u3068\u3092\u7279\u5fb4\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u60a3\u8005\u306f\u901a\u5e38\u3001\u51fa\u751f\u6642\u304b\u3089\u75d9\u6027\u9ebb\u75fa\u3001\u5168\u4f53\u7684\u306a\u767a\u9054\u9045\u5ef6\u3001\u5168\u8eab\u6027\u3066\u3093\u304b\u3093\u3092\u5448\u3057\u3001\u8907\u6570\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u8010\u6027\u304c\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/li>\n\n\n\n<li>\u5bfe\u7167\u7684\u306b\u3001 <strong>\u30d1\u30fc\u30c1\u30f3\u30c8\u30f3\u75c7\u5019\u7fa4<\/strong> \u3053\u308c\u306f\u3001\u30dd\u30ea\u30a2\u30e9\u30cb\u30f3\u30ea\u30d4\u30fc\u30c8\u30c9\u30e1\u30a4\u30f3\u306e\u7279\u5b9a\u306e\u7a81\u7136\u5909\u7570\u3001\u901a\u5e38\u306f\u904e\u5270\u306a\u6570\u306e\u30ea\u30d4\u30fc\u30c8\uff08\u4f8b\uff1a16\uff5e20\uff09\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u69cb\u97f3\u969c\u5bb3\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u6027\u306e\u624b\u306e\u52d5\u304d\u306e\u95a2\u9023\u306b\u3088\u3063\u3066\u81e8\u5e8a\u7684\u306b\u73fe\u308c\u307e\u3059\u3002 <\/li>\n\n\n\n<li>\u5f7c <strong>\u30a6\u30a7\u30b9\u30c8\u75c7\u5019\u7fa4<\/strong> \u306e\u7a81\u7136\u5909\u7570\u3068\u3082\u5f37\u304f\u95a2\u9023\u3057\u3066\u3044\u307e\u3059 <em>ARX<\/em>\u3002\u3053\u308c\u306b\u95a2\u9023\u3057\u3066\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u53e4\u5178\u7684\u306a\u4e09\u89d2\u5f62\u3001\u3059\u306a\u308f\u3061\u5c48\u66f2\u3051\u3044\u308c\u3093\uff08\u904e\u4f38\u5c55\uff09\u3001EEG \u4e0a\u306e\u7121\u79e9\u5e8f\u306a\u6d3b\u6027\u5316\u30d1\u30bf\u30fc\u30f3\u3092\u4f34\u3046\u8133\u75c7\uff08\u3068\u3057\u3066\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\uff09\u3092\u4f34\u3046\u521d\u671f\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306e\u4e00\u5f62\u614b\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002 <em>\u4e0d\u6574\u8108<\/em>\uff09\u3001\u767a\u9054\u9045\u6ede\u3002 <\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u8a3a\u65ad\u3068\u6280\u8853\u7684\u306a\u8ab2\u984c<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u75be\u60a3\u306e\u8a3a\u65ad <em>ARX<\/em> \u9ad8\u5ea6\u306a\u8a3a\u65ad\u6226\u7565\u304c\u5fc5\u8981\u3067\u3059\u3002\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306f\u5f37\u529b\u306a\u30c4\u30fc\u30eb\u3067\u3059\u304c\u3001\u30dd\u30ea\u30a2\u30e9\u30cb\u30f3\u306e\u7e70\u308a\u8fd4\u3057\u3084\u5927\u304d\u306a\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u611f\u5ea6\u306b\u306f\u9650\u754c\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u610f\u5473\u3067\u3001EuroEPINOMICS \u306e\u8a18\u4e8b\u306f\u3001\u907a\u4f1d\u5b50\u304c <em>ARX<\/em> \u305d\u308c\u306f <strong>\u30a8\u30af\u30bd\u30fc\u30e0\u914d\u5217\u6c7a\u5b9a\u3092\u56de\u907f\u3067\u304d\u308b\u907a\u4f1d\u5b50\u306e\u5178\u578b\u7684\u306a\u4f8b <\/strong>\u53cd\u5fa9\u69cb\u9020\u3068\u3001\u6b63\u78ba\u306a\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u3092\u56f0\u96e3\u306b\u3059\u308b\u9ad8\u3044\u76f8\u540c\u6027\u3092\u6301\u3064\u9818\u57df\u306e\u5b58\u5728\u306b\u3088\u308a\u3001\u6a19\u6e96\u3068\u306a\u308a\u307e\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u8907\u96d1\u306a\u69cb\u9020\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u306b\u306f\u3001\u53cd\u5fa9\u5897\u5e45\u3092\u4f34\u3046 PCR\u3001DNA \u65ad\u7247\u306e\u5206\u6790 (\u30ad\u30e3\u30d4\u30e9\u30ea\u30fc\u96fb\u6c17\u6cf3\u52d5\u306a\u3069)\u3001\u3055\u3089\u306b\u306f\u30ed\u30f3\u30b0\u30ea\u30fc\u30c9 \u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0 (PacBio \u3084 Oxford Nanopore \u306a\u3069) \u306a\u3069\u306e\u6280\u8853\u3092\u4f7f\u7528\u3057\u3066\u30a8\u30af\u30bd\u30fc\u30e0\u3092\u88dc\u5b8c\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"765\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/09\/image-1024x765.png\" alt=\"Espectro fenot\u00edpico de mutaciones en ARX\" class=\"wp-image-7931\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/09\/image-1024x765.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/09\/image-300x224.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/09\/image-768x574.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/09\/image-16x12.png 16w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/09\/image.png 1484w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" width=\"667\" height=\"437\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/09\/image-1.png\" alt=\"Mecanismos patog\u00e9nicos de las mutaciones en ARX\" class=\"wp-image-7932\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/09\/image-1.png 667w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/09\/image-1-300x197.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/09\/image-1-18x12.png 18w\" sizes=\"(max-width: 667px) 100vw, 667px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-beyond-the-ion-channel wp-block-embed-beyond-the-ion-channel\">\n<div class=\"wp-block-embed__wrapper\">\n  <a href=\"https:\/\/epilepsygenetics.blog\/arx-this-is-what-you-need-to-know\/\">https:\/\/epilepsygenetics.blog\/arx-this-is-what-you-need-to-know\/<\/a>\n<\/div>\n<\/figure>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-beyond-the-ion-channel wp-block-embed-beyond-the-ion-channel\">\n<div class=\"wp-block-embed__wrapper\">\n  <a href=\"https:\/\/euroepinomics.wordpress.com\/2014\/05\/19\/the-arx-problem-how-an-epilepsy-gene-escapes-exome-sequencing\/\">https:\/\/euroepinomics.wordpress.com\/2014\/05\/19\/the-arx-problem-how-an-epilepsy-gene-escapes-exome-sequencing\/<\/a>\n<\/div>\n<\/figure>","protected":false},"excerpt":{"rendered":"<p>\u67d3\u8272\u4f53\u4e0a\u306b\u4f4d\u7f6e\u3059\u308b ARX (Aristaless \u95a2\u9023\u30db\u30e1\u30aa\u30dc\u30c3\u30af\u30b9) \u907a\u4f1d\u5b50 \u5206\u5b50\u57fa\u76e4\u3068\u767a\u75c5\u30e1\u30ab\u30cb\u30ba\u30e0 ARX \u30bf\u30f3\u30d1\u30af\u8cea\u306b\u306f\u2026 <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/ja\/arx-gene\/\" class=\"more-link\">\u7d9a\u304d\u3092\u8aad\u3080<span class=\"screen-reader-text\"> ????????????????????????????????????????????????????????????????????????????????????????????????????<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":7931,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[4,10],"tags":[],"class_list":["post-7930","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-epilepsia","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/7930","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/comments?post=7930"}],"version-history":[{"count":3,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/7930\/revisions"}],"predecessor-version":[{"id":8721,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/7930\/revisions\/8721"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media\/7931"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media?parent=7930"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/categories?post=7930"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/tags?post=7930"}],"curies":[{"name":"\u3046\u30fc\u3093","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}