{"id":17306,"date":"2026-01-22T02:03:54","date_gmt":"2026-01-22T02:03:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17306"},"modified":"2026-01-22T02:22:59","modified_gmt":"2026-01-22T02:22:59","slug":"earlyinfantile-epileptic-encephalopathy-4-eiee4","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/earlyinfantile-epileptic-encephalopathy-4-eiee4\/","title":{"rendered":"Early infantile epileptic encephalopathy 4 (EIEE4)"},"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><strong>STXBP1\u95a2\u9023\u8133\u75c7\uff08STXBP1-related encephalopathy\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u73fe\u5728\u3001\u533b\u5b66\u754c\u3067\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u3044\u305f\u3053\u306e\u540d\u79f0\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>STXBP1\u95a2\u9023\u3066\u3093\u304b\u3093\u6027\u8133\u75c7<\/strong><\/li>\n\n\n\n<li><strong>\u5927\u7530\u539f\u75c7\u5019\u7fa4\uff08Ohtahara syndrome\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203bEIEE4\u306e\u60a3\u8005\u306e\u591a\u304f\u304c\u3001\u751f\u5f8c\u65e9\u671f\u306b\u3053\u306e\u81e8\u5e8a\u578b\uff08\u30b5\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30fb\u30d0\u30fc\u30b9\u30c8\u3068\u3044\u3046\u8133\u6ce2\u7570\u5e38\u3092\u4f34\u3046\u91cd\u75c7\u3066\u3093\u304b\u3093\uff09\u3092\u5448\u3059\u308b\u305f\u3081\u3001\u6b74\u53f2\u7684\u306b\u3053\u3046\u547c\u3070\u308c\u3066\u304d\u307e\u3057\u305f\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\uff08West syndrome \/ \u70b9\u982d\u3066\u3093\u304b\u3093\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u6210\u9577\u306b\u4f34\u3044\u3001\u5927\u7530\u539f\u75c7\u5019\u7fa4\u304b\u3089\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\u3078\u79fb\u884c\u3059\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MUNC18-1\u6b20\u640d\u75c7<\/strong><\/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>9\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0934.11\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e9\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c34.11\u300d\u3068\u3044\u3046\u4f4d\u7f6e\u306b\u5b58\u5728\u3059\u308b<strong>STXBP1\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u3001\u3042\u308b\u3044\u306f\u540c\u9818\u57df\u3092\u542b\u3080\u5fae\u5c0f\u306a\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068STXBP1\u306e\u5f79\u5272\u3011<\/p>\n\n\n\n<p>STXBP1\uff08Syntaxin-binding protein 1\uff09\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3092\u653e\u51fa\u3059\u308b\u305f\u3081\u306b\u5fc5\u9808\u3068\u306a\u308b**\u300cMUNC18-1\u300d**\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u4f1d\u9054\u306e\u4ed5\u7d44\u307f:<\/strong> \u795e\u7d4c\u7d30\u80de\u306e\u4e2d\u3067\u306f\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u304c\u300c\u30b7\u30ca\u30d7\u30b9\u5c0f\u80de\u300d\u3068\u3044\u3046\u5c0f\u3055\u306a\u888b\u306b\u8a70\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u888b\u304c\u7d30\u80de\u819c\u3068\u5408\u4f53\uff08\u878d\u5408\uff09\u3059\u308b\u3053\u3068\u3067\u3001\u7269\u8cea\u304c\u5916\u3078\u653e\u51fa\u3055\u308c\u3001\u6b21\u306e\u795e\u7d4c\u3078\u3068\u60c5\u5831\u304c\u4f1d\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>STXBP1\u306e\u50cd\u304d:<\/strong> MUNC18-1\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u3053\u306e\u5c0f\u80de\u306e\u878d\u5408\u3092\u52a9\u3051\u308b\u300c\u9375\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>EIEE4\u306e\u72b6\u614b:<\/strong> \u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308a\u3053\u306e\u300c\u9375\u300d\u304c\u6b63\u3057\u304f\u6a5f\u80fd\u3057\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u6570\u304c\u8db3\u308a\u306a\u304f\u306a\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3068\u3001\u795e\u7d4c\u7d30\u80de\u540c\u58eb\u306e\u60c5\u5831\u306e\u3084\u308a\u53d6\u308a\u304c\u6975\u7aef\u306b\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u3001\u8133\u304c\u6fc0\u3057\u3044\u96fb\u6c17\u7684\u306a\u5d50\uff08\u3066\u3093\u304b\u3093\u767a\u4f5c\uff09\u306b\u3055\u3089\u3055\u308c\u3001\u767a\u9054\u304c\u59a8\u3052\u3089\u308c\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7d0430,000\u4eba \u301c 100,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u75be\u60a3:<\/strong> \u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u304c\u3001\u8fd1\u5e74\u306e\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u5831\u544a\u6570\u306f\u6025\u5897\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u306b\u304a\u3051\u308b\u5272\u5408:<\/strong> \u539f\u56e0\u4e0d\u660e\u306e\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306e\u4e2d\u3067\u306f\u3001\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/li>\n\n\n\n<li>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u4eba\u7a2e\u3092\u554f\u308f\u305a\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\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>EIEE4\u306e\u75c7\u72b6\u306f\u975e\u5e38\u306b\u91cd\u7be4\u3067\u3001\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u73fe\u308c\u308b\u300c\u6fc0\u3057\u304f\u3066\u3093\u304b\u3093\u767a\u4f5c\u300d\u3068\u300c\u8457\u3057\u3044\u767a\u9054\u306e\u9045\u6ede\u300d\u304c\u4e8c\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u3066\u3093\u304b\u3093\u767a\u4f5c\uff08Epileptic Seizures\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong> \u591a\u304f\u306f\u751f\u5f8c3\u30f6\u6708\u4ee5\u5185\uff08\u65e9\u3044\u5834\u5408\u306f\u751f\u5f8c\u6570\u65e5\uff09\u306b\u59cb\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u7530\u539f\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u767a\u75c7:<\/strong> \u8eab\u4f53\u304c\u30d3\u30af\u30c3\u3068\u786c\u304f\u306a\u308b\u300c\u5f37\u76f4\u767a\u4f5c\u300d\u304c\u983b\u767a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\u3078\u306e\u79fb\u884c:<\/strong> \u751f\u5f8c\u534a\u5e74\u4ee5\u964d\u3001\u30ab\u30af\u30f3\u3068\u304a\u8f9e\u5100\u3092\u3059\u308b\u3088\u3046\u306a\u300c\u30b9\u30d1\u30ba\u30e0\uff08\u70b9\u982d\u767a\u4f5c\uff09\u300d\u3078\u5909\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027:<\/strong> \u4e00\u822c\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u52b9\u304d\u306b\u304f\u304f\u3001\u767a\u4f5c\u3092\u5b8c\u5168\u306b\u6b62\u3081\u308b\u3053\u3068\u304c\u6975\u3081\u3066\u56f0\u96e3\u306a\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u8133\u6ce2\uff08EEG Findings\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b5\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30fb\u30d0\u30fc\u30b9\u30c8\uff08Suppression-burst\uff09:<\/strong> \u8133\u6ce2\u691c\u67fb\u3067\u3001\u6fc0\u3057\u3044\u96fb\u6c17\u6d3b\u52d5\uff08\u30d0\u30fc\u30b9\u30c8\uff09\u3068\u5e73\u5766\u306a\u6d3b\u52d5\uff08\u30b5\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\uff09\u304c\u4ea4\u4e92\u306b\u73fe\u308c\u308b\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u8133\u306e\u767a\u9054\u3092\u963b\u5bb3\u3059\u308b\u5927\u304d\u306a\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"757\" src=\"\/gene\/wp-content\/uploads\/2026\/01\/EIEE4-1024x757.webp\" alt=\"\" class=\"wp-image-17321\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/01\/EIEE4-1024x757.webp 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/01\/EIEE4-300x222.webp 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/01\/EIEE4-768x568.webp 768w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/01\/EIEE4-1536x1136.webp 1536w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/01\/EIEE4.webp 1600w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p><strong>3. \u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\uff08Developmental Delay\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong> \u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u6709\u7121\u306b\u304b\u304b\u308f\u3089\u305a\u3001\u904b\u52d5\u9762\u3001\u77e5\u80fd\u9762\u3068\u3082\u306b\u767a\u9054\u304c\u8457\u3057\u304f\u9045\u308c\u307e\u3059\u3002\u9996\u3059\u308f\u308a\u304c\u304a\u5ea7\u308a\u304c\u56f0\u96e3\u306a\u300c\u91cd\u75c7\u5fc3\u8eab\u969c\u5bb3\u300d\u306e\u72b6\u614b\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u969c\u5bb3:<\/strong> \u8a00\u8449\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306f\u6975\u3081\u3066\u56f0\u96e3\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9000\u884c:<\/strong> \u4e00\u5ea6\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u304c\u3001\u6fc0\u3057\u3044\u767a\u4f5c\u306e\u3042\u3068\u306b\u3067\u304d\u306a\u304f\u306a\u308b\u300c\u9000\u884c\u300d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u904b\u52d5\u6a5f\u80fd\u306e\u7570\u5e38\uff08Movement Disorders\uff09<\/strong><\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u306f\u5225\u306b\u3001\u904b\u52d5\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u6a5f\u80fd\u306b\u3082\u554f\u984c\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b:<\/strong> \u8d64\u3061\u3083\u3093\u306e\u9803\u3001\u4f53\u304c\u3075\u306b\u3083\u3075\u306b\u3083\u3068\u3057\u3066\u67d4\u3089\u304b\u3044\u3002<\/li>\n\n\n\n<li><strong>\u4e0d\u968f\u610f\u904b\u52d5:<\/strong> \u81ea\u5206\u306e\u610f\u601d\u3068\u306f\u95a2\u4fc2\u306a\u304f\u624b\u8db3\u304c\u52d5\u304f\uff08\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\uff09\u3001\u9707\u3048\u308b\uff08\u632f\u6226\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u75d9\u6027:<\/strong> \u6210\u9577\u3068\u3068\u3082\u306b\u7b4b\u8089\u304c\u7a81\u3063\u5f35\u3063\u3066\u786c\u304f\u306a\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u968f\u4f34\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6442\u98df\u969c\u5bb3:<\/strong> \u98f2\u307f\u8fbc\u307f\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\uff08\u56a5\u4e0b\u969c\u5bb3\uff09\u305f\u3081\u3001\u7d4c\u7ba1\u6804\u990a\u3084\u80c3\u763b\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u7570\u5e38:<\/strong> \u8133\u306e\u554f\u984c\u306b\u3088\u308a\u3001\u76ee\u304c\u898b\u3048\u3066\u3044\u3066\u3082\u8a8d\u8b58\u304c\u96e3\u3057\u3044\uff08\u76ae\u8cea\u8996\u899a\u969c\u5bb3\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u81ea\u9589\u7684\u50be\u5411:<\/strong> \u793e\u4f1a\u6027\u306e\u767a\u9054\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>STXBP1\u907a\u4f1d\u5b50\u306e\u7a81\u7136\u5909\u7570\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo mutation\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>EIEE4\u306e\u60a3\u8005\u306e\u307b\u307c100%\u306f\u3001\u4e21\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u300c\u7a81\u7136\u5909\u7570\u300d\u304c\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\uff08\u5144\u5f1f\uff09\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\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>\u6a5f\u80fd\u55aa\u5931\u5909\u7570:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u306e\u914d\u5217\u304c1\u6587\u5b57\u5909\u308f\u308b\uff08\u70b9\u5909\u7570\uff09\u3001\u3042\u308b\u3044\u306f\u4e00\u90e8\u5206\u304c\u6b20\u3051\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u6b63\u5e38\u306aMUNC18-1\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u534a\u5206\u3057\u304b\u4f5c\u3089\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u8133\u306e\u9ad8\u5ea6\u306a\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3092\u7dad\u6301\u3059\u308b\u306b\u306f\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c100%\u5b58\u5728\u3057\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u305f\u3081\u300150%\u306b\u6e1b\u308b\u3060\u3051\u3067\u91cd\u7be4\u306a\u8133\u75c7\u3092\u767a\u75c7\u3057\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>\u304b\u3064\u3066\u306f\u539f\u56e0\u4e0d\u660e\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6ce2\u691c\u67fb\uff08EEG\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u524d\u8ff0\u306e\u30b5\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30fb\u30d0\u30fc\u30b9\u30c8\u3084\u30d2\u30d7\u30b9\u30a2\u30ea\u30b9\u30df\u30a2\u3092\u78ba\u8a8d\u3057\u3001\u81e8\u5e8a\u7684\u306b\u300c\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u300d\u3067\u3042\u308b\u3068\u5224\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u88c5\u7f6e\uff08MRI\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u5f62\u306b\u5927\u304d\u306a\u7570\u5e38\u306f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u8133\u6881\uff08\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u90e8\u5206\uff09\u304c\u7d30\u3044\u3001\u3042\u308b\u3044\u306f\u8133\u5168\u4f53\u306e\u5bb9\u7a4d\u304c\u5c0f\u3055\u3044\uff08\u8133\u840e\u7e2e\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u306b\u3088\u308b\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790:<\/strong> \u8840\u6db2\u304b\u3089DNA\u3092\u63a1\u53d6\u3057\u3001STXBP1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002\u73fe\u5728\u3001\u3053\u308c\u304c\u6700\u3082\u78ba\u5b9f\u306a\u8a3a\u65ad\u65b9\u6cd5\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb:<\/strong> \u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u5834\u5408\u306b\u6709\u52b9\u3067\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>\u73fe\u5728\u306e\u533b\u7642\u3067\u306f\u3001\u7570\u5e38\u304c\u3042\u308b\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u6cbb\u7642\u306e\u4e3b\u773c\u306f\u300c\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u6291\u5236\u300d\u3068\u300c\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u300d\u300c\u767a\u9054\u306e\u652f\u63f4\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6297\u3066\u3093\u304b\u3093\u85ac\u7642\u6cd5<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u5264\u4f75\u7528:<\/strong> \u4e00\u5264\u3067\u306f\u6b62\u307e\u3089\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u6570\u7a2e\u985e\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u4f7f\u7528\u3057\u307e\u3059\u3002\uff08\u30d5\u30a7\u30ce\u30d0\u30eb\u30d3\u30bf\u30fc\u30eb\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u3001\u30be\u30cb\u30b5\u30df\u30c9\u306a\u3069\uff09<\/li>\n\n\n\n<li><strong>ACTH\u7642\u6cd5:<\/strong> \u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\uff08\u70b9\u982d\u3066\u3093\u304b\u3093\uff09\u3092\u5408\u4f75\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u526f\u814e\u76ae\u8cea\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\uff08ACTH\uff09\u306e\u6ce8\u5c04\u6cbb\u7642\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u4e00\u6642\u7684\u306b\u5287\u7684\u306a\u52b9\u679c\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u526f\u4f5c\u7528\u3078\u306e\u6ce8\u610f\u3082\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u98df\u4e8b\u7642\u6cd5<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b1\u30c8\u30f3\u98df\u7642\u6cd5:<\/strong> \u70ad\u6c34\u5316\u7269\u3092\u6975\u7aef\u306b\u5236\u9650\u3057\u3001\u8102\u8cea\u3092\u4e3b\u3068\u3059\u308b\u98df\u4e8b\u7642\u6cd5\u3067\u3059\u3002\u8133\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u6e90\u3092\u5909\u3048\u308b\u3053\u3068\u3067\u3001\u85ac\u304c\u52b9\u304b\u306a\u3044\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u306e\u767a\u4f5c\u3092\u6e1b\u3089\u3059\u52b9\u679c\u304c\u671f\u5f85\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ff7\u8d70\u795e\u7d4c\u523a\u6fc0\u7642\u6cd5\uff08VNS\uff09:<\/strong> \u80f8\u306b\u88c5\u7f6e\u3092\u690d\u3048\u8fbc\u307f\u3001\u9996\u306e\u795e\u7d4c\u3092\u523a\u6fc0\u3059\u308b\u3053\u3068\u3067\u767a\u4f5c\u3092\u6e1b\u3089\u3059\u65b9\u6cd5\u3067\u3059\u3002\u767a\u4f5c\u304c\u975e\u5e38\u306b\u591a\u304f\u3001\u85ac\u3067\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u9650\u754c\u306a\u5834\u5408\u306b\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5168\u8eab\u7ba1\u7406\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u30fb\u6804\u990a\u7ba1\u7406:<\/strong> \u56a5\u4e0b\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u8aa4\u56a5\u6027\u80ba\u708e\u3092\u9632\u3050\u305f\u3081\u306e\u5438\u5f15\u3084\u3001\u80c3\u763b\u306b\u3088\u308b\u6804\u990a\u88dc\u7d66\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a\u95a2\u7bc0\u306e\u786c\u76f4\u3092\u9632\u304e\u3001\u904b\u52d5\u6a5f\u80fd\u3092\u7dad\u6301\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a\u611f\u899a\u3078\u306e\u523a\u6fc0\u3084\u3001\u624b\u5148\u306e\u6a5f\u80fd\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a\u610f\u601d\u758e\u901a\u306e\u624b\u6bb5\uff08\u7d75\u30ab\u30fc\u30c9\u3084\u30b5\u30a4\u30f3\u306a\u3069\uff09\u306e\u6a21\u7d22\u3084\u3001\u98df\u4e8b\u306e\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u6700\u65b0\u306e\u7814\u7a76\uff08\u5c06\u6765\u306e\u5c55\u671b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b1\u30df\u30ab\u30eb\u30b7\u30e3\u30da\u30ed\u30f3\u7642\u6cd5:<\/strong> \u58ca\u308c\u3084\u3059\u3044\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5b89\u5b9a\u3055\u305b\u308b\u5316\u5408\u7269\uff08\u30d5\u30a7\u30cb\u30eb\u916a\u9178\u306a\u3069\uff09\u3092\u7528\u3044\u305f\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642:<\/strong> \u4e0d\u8db3\u3057\u3066\u3044\u308b\u907a\u4f1d\u5b50\u3092\u88dc\u5145\u3059\u308b\u3001\u3042\u308b\u3044\u306f\u6b8b\u3055\u308c\u305f\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u5f37\u3081\u308b\u6cbb\u7642\u6cd5\u306e\u7814\u7a76\u304c\u4e16\u754c\u4e2d\u3067\u9032\u3093\u3067\u304a\u308a\u3001\u5c06\u6765\u7684\u306a\u6839\u672c\u6cbb\u7642\u3078\u306e\u671f\u5f85\u304c\u304b\u304b\u3063\u3066\u3044\u307e\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>EIEE4\uff08\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c74\u578b\uff09\u306f\u3001\u8133\u306e\u795e\u7d4c\u4f1d\u9054\u306b\u95a2\u308f\u308b\u5927\u5207\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4e0d\u8db3\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u3068\u3066\u3082\u91cd\u3044\u75be\u60a3\u3067\u3059\u3002\u751f\u5f8c\u3059\u3050\u304b\u3089\u59cb\u307e\u308b\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u306b\u52a0\u3048\u3001\u767a\u9054\u306e\u6b69\u307f\u3082\u975e\u5e38\u306b\u3086\u3063\u304f\u308a\u3057\u305f\u3082\u306e\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u544a\u77e5\u76f4\u5f8c\u306e\u4e0d\u5b89\u3084\u65e5\u3005\u306e\u770b\u75c5\u306e\u8ca0\u62c5\u306f\u8a08\u308a\u77e5\u308c\u306a\u3044\u3082\u306e\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u9032\u3093\u3060\u3053\u3068\u3067\u3001\u300c\u539f\u56e0\u4e0d\u660e\u300d\u3060\u3063\u305f\u72b6\u614b\u304b\u3089\u300cSTXBP1\u306e\u554f\u984c\u300d\u3067\u3042\u308b\u3068\u6b63\u3057\u304f\u8a3a\u65ad\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u4e0d\u5fc5\u8981\u306a\u691c\u67fb\u3092\u6e1b\u3089\u3057\u3001\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u3084\u5c02\u9580\u533b\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u9577\u671f\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u3066\u3093\u304b\u3093\u5c02\u9580\u533b\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u533b\u3001\u30ea\u30cf\u30d3\u30ea\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u798f\u7949\u652f\u63f4\u30c1\u30fc\u30e0\u3068\u624b\u3092\u53d6\u308a\u5408\u3044\u3001\u304a\u5b50\u69d8\u306e\u300c\u4eca\u65e5\u4e00\u65e5\u300d\u306e\u7a4f\u3084\u304b\u306a\u6642\u9593\u3092\u5b88\u308a\u3001\u5c11\u3057\u305a\u3064\u306e\u6210\u9577\u3092\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\u533b\u7642\u306e\u9032\u6b69\u306f\u7740\u5b9f\u306b\u9032\u3093\u3067\u304a\u308a\u3001\u5c06\u6765\u306e\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u306e\u78ba\u7acb\u306b\u5411\u3051\u305f\u7814\u7a76\u3082\u7d9a\u3051\u3089\u308c\u3066\u3044\u307e\u3059\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>Saitsu, H., et al.<\/strong> (2008). <em>De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08EIEE4\u3068STXBP1\u907a\u4f1d\u5b50\u306e\u95a2\u9023\u3092\u4e16\u754c\u3067\u521d\u3081\u3066\u5831\u544a\u3057\u305f\u3001\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Stamberger, H., et al.<\/strong> (2016). <em>STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.<\/em> Neurology.\n<ul class=\"wp-block-list\">\n<li>\uff08STXBP1\u95a2\u9023\u8133\u75c7\u306e\u81e8\u5e8a\u50cf\u3092\u5305\u62ec\u7684\u306b\u307e\u3068\u3081\u305f\u5927\u898f\u6a21\u306a\u7814\u7a76\u5831\u544a\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Suri, M., et al.<\/strong> (2017). <em>STXBP1 encephalopathy: The clinical spectrum and phenotypic-genotypic correlation.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306e\u7a2e\u985e\u3068\u75c7\u72b6\u306e\u51fa\u65b9\u306e\u95a2\u4fc2\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u8ad6\u3058\u3066\u3044\u307e\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>STXBP1 Encephalopathy<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u30fb\u907a\u4f1d\u5b50\u7570\u5e38\u306e\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u5bb6\u65cf\u5411\u3051\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>STXBP1 Encephalopathy with Epilepsy<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u533b\u5b66\u7684\u306a\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u304c\u7db2\u7f85\u3055\u308c\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3059\u3002\uff09<\/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-17306","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\/17306","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":5,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17306\/revisions"}],"predecessor-version":[{"id":17322,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17306\/revisions\/17322"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17306"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}