{"id":17002,"date":"2026-01-21T03:53:43","date_gmt":"2026-01-21T03:53:43","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17002"},"modified":"2026-01-21T03:55:07","modified_gmt":"2026-01-21T03:55:07","slug":"2q24-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2q24-microdeletion-syndrome\/","title":{"rendered":"2q24 microdeletion syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>2q24\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2q24\u6b20\u5931\u75c7\u5019\u7fa4\uff082q24 deletion syndrome\uff09<\/li>\n\n\n\n<li>2q24\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 2q24\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aSCN1A\u95a2\u9023\u767a\u4f5c\u6027\u75be\u60a3\uff08SCN1A-related seizure disorders\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\uff08Dravet syndrome \/ \u4e73\u5150\u91cd\u75c7\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u6b20\u5931\u9818\u57df\u306b<em>SCN1A<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u306e\u8868\u73fe\u578b\uff08\u91cd\u75c7\u578b\uff09\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u975e\u5e38\u306b\u5bc6\u63a5\u306a\u95a2\u9023\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u5927\u7530\u539f\u75c7\u5019\u7fa4\u3001\u30a6\u30a7\u30b9\u30c8\u75c7\u5019\u7fa4\uff08\u70b9\u982d\u3066\u3093\u304b\u3093\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u767a\u75c7\u521d\u671f\u306b\u3053\u308c\u3089\u306e\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306e\u5f62\u3092\u3068\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>2\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0924\u9818\u57df\uff082q24.1 &#8211; 2q24.3\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e2\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c24\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u300c\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u30af\u30e9\u30b9\u30bf\u30fc\u300d\u3011<\/p>\n\n\n\n<p>2q24\u9818\u57df\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u8208\u596e\u3092\u5236\u5fa1\u3059\u308b\u305f\u3081\u306b\u6975\u3081\u3066\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u96c6\u307e\u3063\u3066\u3044\u308b\u5834\u6240\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u91cd\u8981\u306a\u306e\u304c\u3001**\u300c\u96fb\u4f4d\u4f9d\u5b58\u6027\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u907a\u4f1d\u5b50\u7fa4\uff08SCN\u30af\u30e9\u30b9\u30bf\u30fc\uff09\u300d**\u3067\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u96a3\u308a\u5408\u3063\u3066\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u6291\u5236\u6027\u30cb\u30e5\u30fc\u30ed\u30f3\uff08\u8208\u596e\u3092\u6291\u3048\u308b\u795e\u7d4c\uff09\u306e\u6d3b\u52d5\u306b\u4e0d\u53ef\u6b20\u306a\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u8133\u306e\u30d6\u30ec\u30fc\u30ad\u304c\u52b9\u304b\u306a\u304f\u306a\u308a\u3001\u6fc0\u3057\u3044\u3066\u3093\u304b\u3093\u767a\u4f5c\uff08\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SCN2A:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8208\u596e\u6027\u30cb\u30e5\u30fc\u30ed\u30f3\u306b\u95a2\u308f\u308b\u30c1\u30e3\u30cd\u30eb\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3082\u3001\u3066\u3093\u304b\u3093\u3084\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3001\u77e5\u7684\u969c\u5bb3\u306b\u6df1\u304f\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SCN3A:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5150\u671f\u3084\u4e73\u5150\u671f\u306e\u8133\u767a\u9054\u306b\u95a2\u308f\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GPD2, GALNT3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u3082\u5931\u308f\u308c\u3001\u9aa8\u4ee3\u8b1d\u3084\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u75c7\u72b6\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u3011<\/p>\n\n\n\n<p>2q24\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u5358\u306a\u308b\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\uff08SCN1A\u306e\u70b9\u5909\u7570\u304c\u539f\u56e0\u306e\u5834\u5408\u304c\u591a\u3044\uff09\u3068\u306f\u7570\u306a\u308a\u3001\u96a3\u63a5\u3059\u308bSCN2A\u3084SCN3A\u306a\u3069\u3082\u4e00\u7dd2\u306b\u3054\u3063\u305d\u308a\u3068\u6b20\u5931\u3059\u308b**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u5178\u578b\u7684\u306a\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306b\u52a0\u3048\u3001\u3088\u308a\u91cd\u5ea6\u306a\u767a\u9054\u9045\u6ede\u3084\u3001\u7279\u6709\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u3092\u5408\u4f75\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u304b\u3089\u767e\u4f8b\u7a0b\u5ea6\u3067\u3059\u304c\u3001\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u306e\u4e2d\u306b\u3001\u8a73\u7d30\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff09\u3092\u884c\u3063\u3066\u3044\u306a\u3044\u67d3\u8272\u4f53\u6b20\u5931\u4f8b\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u81ea\u4f53\u306f2\u4e07\u301c4\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u3046\u3061\u306e\u6570\uff05\u304c\u3053\u306e\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308b\u3082\u306e\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>2q24 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u300d\u300c\u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u30fb\u8eab\u4f53\u6240\u898b\u300d**\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u7ba1\u7406\u304c\u751f\u6d3b\u306e\u4e2d\u5fc3\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u3066\u3093\u304b\u3093\uff08Epilepsy\uff09<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\uff0890%\u4ee5\u4e0a\uff09\u3067\u898b\u3089\u308c\u308b\u3001\u6700\u3082\u533b\u5b66\u7684\u5bfe\u5fdc\u3092\u8981\u3059\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u975e\u5e38\u306b\u65e9\u671f\u3001\u591a\u304f\u306f**\u751f\u5f8c1\u5e74\u4ee5\u5185\uff08\u5e73\u5747\u3057\u3066\u751f\u5f8c3\u301c5\u30f6\u6708\u9803\uff09**\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u4f5c\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u71b1\u6027\u3051\u3044\u308c\u3093\u91cd\u7a4d:<\/strong> \u767a\u71b1\u306b\u4f34\u3063\u3066\u9577\u6642\u9593\uff0830\u5206\u4ee5\u4e0a\uff09\u7d9a\u304f\u767a\u4f5c\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u5165\u6d74\u3084\u4e88\u9632\u63a5\u7a2e\u5f8c\u306e\u767a\u71b1\u304c\u8a98\u5f15\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591a\u5f69\u306a\u767a\u4f5c\u578b:<\/strong> \u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\uff08\u5927\u767a\u4f5c\uff09\u3001\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u767a\u4f5c\uff08\u30d4\u30af\u30c3\u3068\u3059\u308b\u52d5\u304d\uff09\u3001\u7126\u70b9\u767a\u4f5c\u3001\u8131\u529b\u767a\u4f5c\u306a\u3069\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u767a\u4f5c\u306e\u5f62\u304c\u5909\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65e2\u5b58\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u52b9\u304d\u306b\u304f\u304f\uff08\u85ac\u5264\u62b5\u6297\u6027\uff09\u3001\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306b\u96e3\u6e0b\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u5f71\u97ff\u306b\u52a0\u3048\u3001\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u305d\u306e\u3082\u306e\u306b\u3088\u308b\u8133\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\u524d\uff08\u751f\u5f8c\u6570\u30f6\u6708\uff09\u307e\u3067\u306f\u9806\u8abf\u306b\u767a\u9054\u3057\u3066\u3044\u3066\u3082\u3001\u767a\u4f5c\u306e\u958b\u59cb\u3068\u3068\u3082\u306b\u767a\u9054\u304c\u505c\u6ede\u3001\u3042\u308b\u3044\u306f\u9000\u884c\uff08\u3067\u304d\u3066\u3044\u305f\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\u308b\uff09\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u3001\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u7372\u5f97\u306f\u9650\u5b9a\u7684\u3067\u3001\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u5834\u5408\u3084\u3001\u6570\u8a9e\u306e\u5358\u8a9e\u306e\u307f\u306e\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u6a5f\u80fd:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u5931\u8abf\uff08Ataxia\uff09:<\/strong> \u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3082\u3001\u3075\u3089\u3064\u304d\u304c\u3042\u308a\u3001\u8db3\u3092\u958b\u3044\u3066\u6b69\u304f\uff08\u30ef\u30a4\u30c9\u30d9\u30fc\u30b9\uff09\u7279\u5fb4\u7684\u306a\u6b69\u304d\u65b9\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u70b9\u5909\u7570\u306b\u3088\u308b\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u3067\u306f\u9854\u8c8c\u306e\u7279\u5fb4\u306f\u5c11\u306a\u3044\u3067\u3059\u304c\u3001\u67d3\u8272\u4f53\u6b20\u5931\u3067\u3042\u308b\u672c\u75c7\u5019\u7fa4\u3067\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u3044\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u5e45\u5e83\u3044\u9f3b\u6839\u90e8\u3001\u9f3b\u6881\u304c\u4f4e\u3044\u3002<\/li>\n\n\n\n<li>\u9577\u3044\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u4e0a\u5507\u304c\u8584\u3044\u3001\u53e3\u5507\u53e3\u84cb\u88c2\uff08\u7a00\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7b4b\u9aa8\u683c\u30fb\u305d\u306e\u4ed6\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6307\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77ed\u6307\u75c7\uff08\u6307\u304c\u77ed\u3044\uff09\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\u3001\u624b\u8db3\u304c\u5c0f\u3055\u3044\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306f\u6b63\u5e38\u7bc4\u56f2\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u4f4e\u8eab\u9577\u3084\u5c0f\u982d\u75c7\uff08\u982d\u304c\u5c0f\u3055\u3044\uff09\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u52d5\u3001\u6ce8\u610f\u6563\u6f2b\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u69d8\u306e\u7279\u5fb4\uff08\u3053\u3060\u308f\u308a\u3001\u5e38\u540c\u884c\u52d5\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>2\u756a\u67d3\u8272\u4f53\u9577\u8155\uff082q24\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u6a5f\u80fd\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306f\u3001\u96fb\u6c17\u4fe1\u53f7\u3092\u4f7f\u3063\u3066\u60c5\u5831\u306e\u3084\u308a\u53d6\u308a\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u96fb\u6c17\u4fe1\u53f7\u3092\u751f\u307f\u51fa\u3059\u305f\u3081\u306b\u5fc5\u8981\u306a\u306e\u304c\u300c\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u300d\u3068\u3044\u3046\u7d30\u80de\u306e\u30c9\u30a2\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SCN1A\u6b20\u5931\u306e\u5f71\u97ff:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6291\u5236\u6027\u30cb\u30e5\u30fc\u30ed\u30f3\uff08\u8208\u596e\u3092\u93ae\u3081\u308b\u795e\u7d4c\uff09\u306b\u3042\u308b\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u30d6\u30ec\u30fc\u30ad\u5f79\u306e\u795e\u7d4c\u304c\u50cd\u304b\u305a\u3001\u8133\u5168\u4f53\u304c\u7570\u5e38\u306b\u8208\u596e\u3057\u3084\u3059\u3044\u72b6\u614b\uff08\u66b4\u8d70\u72b6\u614b\uff09\u306b\u306a\u308a\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u8d77\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u96a3\u63a5\u907a\u4f1d\u5b50\u306e\u5f71\u97ff:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>SCN2A<\/em>\u3084<em>SCN3A<\/em>\u306a\u3069\u3082\u540c\u6642\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u3066\u3093\u304b\u3093\u306e\u91cd\u75c7\u5ea6\u3084\u767a\u75c7\u6642\u671f\u3001\u767a\u9054\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u8907\u96d1\u306a\u4fee\u98fe\u304c\u52a0\u308f\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>2q24\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u591a\u6570<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u7a00\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u7a00\u306b\u907a\u4f1d\u6027\u306e\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u65e9\u671f\u767a\u75c7\u306e\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u300d\u3068\u300c\u767a\u9054\u9045\u6ede\u300d\u304c\u3042\u308b\u5834\u5408\u3001\u7279\u306b\u767a\u71b1\u306b\u3088\u308b\u767a\u4f5c\u8a98\u767a\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306b\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>2q24\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u7bc4\u56f2\u306b<em>SCN1A<\/em>\u306a\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\u3084\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u691c\u67fb\uff08SCN1A\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\uff09\u3067\u306f\u3001\u67d3\u8272\u4f53\u6b20\u5931\u306e\u5168\u5bb9\u304c\u5206\u304b\u3089\u306a\u3044\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb \/ \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u306a\u3069\u3067<em>SCN1A<\/em>\u306e\u30b3\u30d4\u30fc\u6570\u7570\u5e38\uff08CNV\uff09\u3068\u3057\u3066\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u3092\u652f\u3048\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u3066\u3093\u304b\u3093\u85ac\u7269\u7642\u6cd5\uff08\u6700\u91cd\u8981\uff1a\u7981\u5fcc\u85ac\u306b\u6ce8\u610f\uff09<\/strong><\/p>\n\n\n\n<p><em>SCN1A<\/em>\u6a5f\u80fd\u4e0d\u5168\u304c\u3042\u308b\u5834\u5408\u3001\u4f7f\u7528\u3059\u308b\u85ac\u306e\u9078\u629e\u306b\u306f\u7d30\u5fc3\u306e\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002**\u300c\u4f7f\u3063\u3066\u306f\u3044\u3051\u306a\u3044\u85ac\u300d**\u304c\u3042\u308b\u3053\u3068\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6709\u52b9\u6027\u304c\u671f\u5f85\u3055\u308c\u308b\u85ac:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30d0\u30eb\u30d7\u30ed\u9178\uff08VPA\uff09\u3001\u30af\u30ed\u30d0\u30b6\u30e0\uff08CLB\uff09\u3001\u30c8\u30d4\u30e9\u30de\u30fc\u30c8\uff08TPM\uff09\u3001\u30b9\u30c1\u30ea\u30da\u30f3\u30c8\u30fc\u30eb\uff08STP\uff09\u3001\u81ed\u5316\u30ab\u30ea\u30a6\u30e0\uff08KBr\uff09\u3001\u30d5\u30a7\u30f3\u30d5\u30eb\u30e9\u30df\u30f3\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u8fd1\u5e74\u3001\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u306b\u5bfe\u3057\u3066\u30ab\u30f3\u30ca\u30d3\u30b8\u30aa\u30fc\u30eb\uff08CBD\uff09\u88fd\u5264\u3082\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907f\u3051\u308b\u3079\u304d\u85ac\uff08\u5897\u60aa\u30ea\u30b9\u30af\u3042\u308a\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u906e\u65ad\u85ac<\/strong>\u306f\u3001\u75c7\u72b6\u3092\u60aa\u5316\u3055\u305b\u308b\u6050\u308c\u304c\u3042\u308b\u305f\u3081\u3001\u539f\u5247\u3068\u3057\u3066\u4f7f\u7528\u3092\u907f\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f8b\uff1a\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\uff08CBZ\uff09\u3001\u30e9\u30e2\u30c8\u30ea\u30ae\u30f3\uff08LTG\uff09\u3001\u30d5\u30a7\u30cb\u30c8\u30a4\u30f3\uff08PHT\uff09\u3001\u30aa\u30af\u30b9\u30ab\u30eb\u30d0\u30bc\u30d4\u30f3\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u203b\u8a3a\u65ad\u524d\u306b\u3053\u308c\u3089\u306e\u85ac\u304c\u51e6\u65b9\u3055\u308c\u3001\u767a\u4f5c\u304c\u60aa\u5316\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u306e\u610f\u7fa9\u306f\u6975\u3081\u3066\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u71b1\u6642\u306e\u7ba1\u7406\u30fb\u91cd\u7a4d\u4e88\u9632<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u71b1\u5bfe\u7b56:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u71b1\u306f\u767a\u4f5c\u306e\u5f37\u529b\u306a\u5f15\u304d\u91d1\u306b\u306a\u308a\u307e\u3059\u3002\u611f\u67d3\u75c7\u4e88\u9632\u3092\u5fb9\u5e95\u3057\u3001\u767a\u71b1\u6642\u306f\u65e9\u3081\u306b\u89e3\u71b1\u5264\u3092\u4f7f\u7528\u3057\u305f\u308a\u3001\u4f53\u3092\u51b7\u3084\u3057\u305f\u308a\u3059\u308b\u306a\u3069\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u91cd\u7a4d\u6642\u306e\u5bfe\u5fdc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u304c\u6b62\u307e\u3089\u306a\u3044\uff08\u91cd\u7a4d\u72b6\u614b\uff09\u5834\u5408\u306f\u3001\u30d6\u30b3\u30e9\u30e0\uff08\u30df\u30c0\u30be\u30e9\u30e0\u53e3\u8154\u7528\u6db2\uff09\u3084\u30c0\u30a4\u30a2\u30c3\u30d7\uff08\u30b8\u30a2\u30bc\u30d1\u30e0\u5750\u5264\uff09\u306a\u3069\u306e\u6551\u6025\u85ac\u3092\u4f7f\u7528\u3057\u3001\u901f\u3084\u304b\u306b\u533b\u7642\u6a5f\u95a2\u3092\u53d7\u8a3a\u3059\u308b\u4f53\u5236\uff08\u6551\u6025\u642c\u9001\u8a08\u753b\uff09\u3092\u6574\u3048\u3066\u304a\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u30fb\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u5931\u8abf\u3084\u4f4e\u7dca\u5f35\u306b\u5bfe\u3057\u3001\u8eab\u4f53\u6a5f\u80fd\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002\u6b69\u884c\u5668\u306a\u3069\u306e\u88dc\u88c5\u5177\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u8a9e\u304c\u5c11\u306a\u3044\u5834\u5408\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3001AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u6d3b\u7528\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6442\u98df\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u56a5\u4e0b\u6a5f\u80fd\u306b\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u3001\u98df\u4e8b\u5f62\u614b\u306e\u5de5\u592b\u3084\u7d4c\u7ba1\u6804\u990a\u306e\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5bb6\u65cf\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3078\u306e\u5e38\u6642\u306e\u5099\u3048\u304c\u5fc5\u8981\u306a\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306e\u7cbe\u795e\u7684\u30fb\u8eab\u4f53\u7684\u8ca0\u62c5\u306f\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304b\u3089\u3001\u75be\u60a3\u306e\u4e88\u5f8c\u3001\u85ac\u306e\u6ce8\u610f\u70b9\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a2a\u554f\u770b\u8b77\u3084\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\uff08\u77ed\u671f\u5165\u6240\uff09\u306a\u3069\u306e\u798f\u7949\u8cc7\u6e90\u3092\u7a4d\u6975\u7684\u306b\u6d3b\u7528\u3057\u3001\u5bb6\u65cf\u304c\u4f11\u606f\u3067\u304d\u308b\u4f53\u5236\u3092\u4f5c\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>2q24 microdeletion syndrome\u306f\u3001\u8133\u306e\u96fb\u6c17\u4fe1\u53f7\u3092\u8abf\u7bc0\u3059\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08SCN1A\u306a\u3069\uff09\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u3001\u304a\u71b1\u304c\u51fa\u305f\u6642\u306a\u3069\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u5f37\u3044\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u7e70\u308a\u8fd4\u3059\u767a\u4f5c\u3084\u3001\u306a\u304b\u306a\u304b\u8a00\u8449\u304c\u51fa\u306a\u3044\u3068\u3044\u3063\u305f\u767a\u9054\u306e\u9045\u308c\u306f\u3001\u5927\u304d\u306a\u4e0d\u5b89\u306e\u7a2e\u304b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u304c\u300cSCN1A\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u300d\u3060\u3068\u5206\u304b\u308b\u3053\u3068\u306f\u3001\u6cbb\u7642\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u5927\u304d\u306a\u610f\u5473\u3092\u6301\u3061\u307e\u3059\u3002\u306a\u305c\u306a\u3089\u3001\u300c\u4f7f\u3063\u3066\u306f\u3044\u3051\u306a\u3044\u3066\u3093\u304b\u3093\u85ac\u300d\u3092\u907f\u3051\u3001\u300c\u52b9\u679c\u304c\u671f\u5f85\u3067\u304d\u308b\u85ac\u300d\u3092\u7684\u78ba\u306b\u9078\u3076\u3053\u3068\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u304b\u3089\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u3057\u3044\u8a3a\u65ad\u306f\u3001\u304a\u5b50\u3055\u3093\u3092\u5b88\u308b\u305f\u3081\u306e\u6700\u5927\u306e\u6b66\u5668\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406\u306f\u9577\u671f\u6226\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u767a\u4f5c\u306e\u50be\u5411\u304c\u5909\u308f\u3063\u305f\u308a\u3001\u843d\u3061\u7740\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u8a00\u8449\u3067\u306e\u4f1a\u8a71\u304c\u96e3\u3057\u304f\u3066\u3082\u3001\u304a\u5b50\u3055\u3093\u306f\u8868\u60c5\u3084\u8eab\u632f\u308a\u3067\u305f\u304f\u3055\u3093\u306e\u3053\u3068\u3092\u4f1d\u3048\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u6cbb\u533b\uff08\u5c0f\u5150\u795e\u7d4c\u5c02\u9580\u533b\uff09\u3001\u85ac\u5264\u5e2b\u3001\u8a2a\u554f\u770b\u8b77\u5e2b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3068\u5f37\u56fa\u306a\u30c1\u30fc\u30e0\u3092\u4f5c\u308a\u3001\u304a\u5b50\u3055\u3093\u306e\u5b89\u5168\u3092\u5b88\u308a\u306a\u304c\u3089\u3001\u65e5\u3005\u306e\u6210\u9577\u3092\u4e00\u7dd2\u306b\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Heron, S.E., et al.<\/strong> (2010). <em>Extended spectrum of early-onset epilepsy and intellectual disability linked to the SCN1A gene.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSCN1A\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\u3060\u3051\u3067\u306a\u304f\u30012q24\u6b20\u5931\u304c\u91cd\u7be4\u306a\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u3092\u793a\u3057\u3001\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Pereira, S., et al.<\/strong> (2004). <em>Severe epilepsy, retardation, and dysmorphic features following a 2q deletion including SCN1A and SCN2A.<\/em> Neurology.\n<ul class=\"wp-block-list\">\n<li>(\u203bSCN1A\u3068SCN2A\u306e\u4e21\u65b9\u3092\u542b\u3080\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u81e8\u5e8a\u50cf\u3092\u5831\u544a\u3002\u70b9\u5909\u7570\u306b\u3088\u308b\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u3088\u308a\u3082\u91cd\u7be4\u306a\u8eab\u4f53\u7684\u7279\u5fb4\u3084\u767a\u9054\u9045\u6ede\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3092\u6307\u6458\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>M\u00f8ller, R.S., et al.<\/strong> (2013). <em>Difficulties in phenotype-genotype correlations in SCN1A-related epilepsy.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSCN1A\u95a2\u9023\u75be\u60a3\u306e\u591a\u69d8\u6027\u306b\u3064\u3044\u3066\u3001\u6b20\u5931\u4f8b\u3092\u542b\u3081\u3066\u691c\u8a0e\u3057\u305f\u30ec\u30d3\u30e5\u30fc\u3002\u96a3\u63a5\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306b\u3088\u308b\u300c\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u30d7\u30e9\u30b9\u300d\u306e\u6982\u5ff5\u306b\u3064\u3044\u3066\u8003\u5bdf\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Pescucci, C., et al.<\/strong> (2011). <em>2q24-q31 deletion: report of a case and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2q24\u9818\u57df\u306e\u6b20\u5931\u7bc4\u56f2\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u95a2\u9023\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u3001\u5404\u907a\u4f1d\u5b50\uff08SCN\u30af\u30e9\u30b9\u30bf\u30fc\u4ee5\u5916\u3082\u542b\u3080\uff09\u306e\u5f79\u5272\u306b\u3064\u3044\u3066\u307e\u3068\u3081\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>SCN1A Seizure Disorders<\/em>. Initial Posting: November 29, 2007; Last Update: April 18, 2019. <em>Authors: Miller IO, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u3092\u542b\u3080SCN1A\u95a2\u9023\u75be\u60a3\u306e\u8a3a\u65ad\u3001\u6cbb\u7642\uff08\u7981\u5fcc\u85ac\u542b\u3080\uff09\u3001\u7ba1\u7406\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u6b20\u5931\u4f8b\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u3042\u308a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>2q24 deletions<\/em> (2020).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406\u3001\u767a\u71b1\u6642\u306e\u5bfe\u5fdc\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17002","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17002","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17002\/revisions"}],"predecessor-version":[{"id":17005,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17002\/revisions\/17005"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17002"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}