{"id":136821,"date":"2026-09-08T12:23:59","date_gmt":"2026-09-08T03:23:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136821"},"modified":"2026-09-08T12:23:59","modified_gmt":"2026-09-08T03:23:59","slug":"early-infantile-epileptic-encephalopathy-25-slc13a5","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-25-slc13a5\/","title":{"rendered":"\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c725\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c725\u578b\u306f\u3001\u4e73\u5150\u671f\u306e\u65e9\u3044\u6642\u671f\u304b\u3089<strong>\u6cbb\u7642\u306b\u62b5\u6297\u3059\u308b\u3051\u3044\u308c\u3093<\/strong>\u304c\u73fe\u308c\u3001\u305d\u308c\u306b\u3088\u3063\u3066\u767a\u9054\u304c\u640d\u306a\u308f\u308c\u3066\u3044\u304f\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>SLC13A5<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f<strong>\u300c\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff08DEE\uff09\u300d<\/strong>\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001<strong>\u767a\u4f5c\u305d\u306e\u3082\u306e\u304c\u767a\u9054\u3092\u59a8\u3052\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u81ea\u4f53\u3082\u767a\u9054\u306b\u5f71\u97ff\u3057\u3066\u3044\u308b<\/strong>\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u305f\u305f\u3081\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f100\u4ee5\u4e0a\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001<strong>\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u52b9\u304f\u85ac\u30fb\u907f\u3051\u308b\u3079\u304d\u85ac\u304c\u9055\u3046<\/strong>\u305f\u3081\u3001\u539f\u56e0\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u6cbb\u7642\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>SLC13A5<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u304f\u4fe1\u53f7\u3092\u3084\u308a\u3068\u308a\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>SLC13A5<\/strong> \u306f\u3001\u7d30\u80de\u306b<strong>\u30af\u30a8\u30f3\u9178\u3092\u904b\u3073\u5165\u308c\u308b<\/strong>\u8f38\u9001\u4f53\u3067\u3059\u3002\u3053\u306e\u578b\u3067\u306f\u3001<strong>\u751f\u307e\u308c\u3066\u304b\u3089\u6b6f\u304c\u751f\u3048\u3066\u3053\u306a\u3044\u3001\u307e\u305f\u306f\u6b6f\u306e\u5f62\u6210\u304c\u4e0d\u5341\u5206\uff08\u7121\u6b6f\u75c7\u30fb\u6b6f\u306e\u5f62\u6210\u4e0d\u5168\uff09<\/strong>\u3068\u3044\u3046\u3001\u3081\u305a\u3089\u3057\u3044\u7279\u5fb4\u3092\u4f34\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e73\u5150\u671f\u304b\u3089\u306e\u3051\u3044\u308c\u3093<\/strong>\uff08\u591a\u304f\u306f\u751f\u5f8c1\u5e74\u4ee5\u5185\u3001\u578b\u306b\u3088\u3063\u3066\u306f\u65b0\u751f\u5150\u671f\u304b\u3089\uff09<\/li>\n\n\n\n<li><strong>\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\uff08\u96e3\u6cbb\u6027\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u9045\u308c\u3001\u307e\u305f\u306f\u7372\u5f97\u3057\u305f\u80fd\u529b\u306e\u9000\u884c<\/strong><\/li>\n\n\n\n<li>\u8133\u6ce2\u306e\u7570\u5e38\uff08\u30b5\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30d0\u30fc\u30b9\u30c8\u3001\u30d2\u30d7\u30b9\u30a2\u30ea\u30b9\u30df\u30a2\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\uff08\u4f4e\u4e0b\u307e\u305f\u306f\u786c\u76f4\uff09<\/li>\n\n\n\n<li><strong><strong>\u6b6f\u304c\u751f\u3048\u306a\u3044\u30fb\u6b6f\u306e\u5f62\u6210\u4e0d\u5168<\/strong>\uff08\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\uff09\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u3051\u3044\u308c\u3093<\/strong><\/li>\n\n\n\n<li>\u6442\u98df\u306e\u56f0\u96e3\u3001\u6210\u9577\u306e\u9045\u308c<\/li>\n\n\n\n<li>\u203b\u767a\u4f5c\u306e\u578b\u3068\u8133\u6ce2\u306e\u6240\u898b\u306f\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u8133\u6ce2\u691c\u67fb\uff08\u767a\u4f5c\u6642\u30fb\u767a\u4f5c\u9593\u6b20\u671f\uff09\u3068\u982d\u90e8MRI\u3092\u884c\u3044\u3001\u4ee3\u8b1d\u6027\u75be\u60a3\u30fb\u611f\u67d3\u75c7\u30fb\u8133\u306e\u69cb\u9020\u7570\u5e38\u306a\u3069\u3092\u9664\u5916\u3057\u307e\u3059\u3002<strong>\u539f\u56e0\u4e0d\u660e\u306e\u4e73\u5150\u3066\u3093\u304b\u3093\u3067\u306f\u3001\u65e9\u3044\u6bb5\u968e\u3067\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u3066\u3093\u304b\u3093\u30d1\u30cd\u30eb\u307e\u305f\u306f\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff09\u304c\u63a8\u5968\u3055\u308c\u307e\u3059<\/strong>\u3002<strong>SLC13A5<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c725\u578b\u3068\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u3066\u3093\u304b\u3093\u85ac<\/strong>\uff1a\u767a\u4f5c\u306e\u578b\u3068\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u5fdc\u3058\u3066\u9078\u3073\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u4f5c\u306e\u578b\u306b\u5fdc\u3058\u305f\u85ac\u306e\u8abf\u6574\uff08\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u304c\u591a\u304f\u306a\u308a\u307e\u3059\uff09<\/strong><\/li>\n\n\n\n<li>\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u304c\u6709\u52b9\u306a\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u8ff7\u8d70\u795e\u7d4c\u523a\u6fc0\u7642\u6cd5\u3001\u3066\u3093\u304b\u3093\u5916\u79d1\uff08\u9069\u5fdc\u304c\u3042\u308b\u5834\u5408\uff09<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2<\/strong>\uff08\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\uff09<\/li>\n\n\n\n<li>\u6804\u990a\u306e\u7ba1\u7406\uff08\u7d4c\u7ba1\u6804\u990a\u3092\u542b\u3080\uff09\u3001\u547c\u5438\u306e\u7ba1\u7406<\/li>\n\n\n\n<li>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3068\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u3064\u3044\u3066\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>SLC13A5<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>SLC13A5<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c725\u578b\u306f <strong>SLC13A5<\/strong> \u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff08developmental and epileptic encephalopathy, DEE\uff09\u3067\u3042\u308b\u3002DEE\u306fILAE\u306b\u3088\u308a\u3001<strong>\u300c\u3066\u3093\u304b\u3093\u6027\u6d3b\u52d5\u305d\u306e\u3082\u306e\u306b\u3088\u308b\u767a\u9054\u969c\u5bb3\uff08epileptic encephalopathy\uff09\u300d\u3068\u300c\u57fa\u790e\u75be\u60a3\u306b\u3088\u308b\u767a\u9054\u969c\u5bb3\uff08developmental encephalopathy\uff09\u300d\u306e\u53cc\u65b9\u304c\u5bc4\u4e0e\u3059\u308b\u75c5\u614b<\/strong>\u3068\u5b9a\u7fa9\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p><strong>SLC13A5<\/strong>\uff0817p13.1\uff09\u306fNaCT\uff08Na+\/\u30af\u30a8\u30f3\u9178\u5171\u8f38\u9001\u4f53\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001\u7d30\u80de\u5916\u30af\u30a8\u30f3\u9178\u306e\u53d6\u308a\u8fbc\u307f\u3092\u62c5\u3046\u3002\u6b20\u640d\u306b\u3088\u308a<strong>\u8840\u6f3f\u30af\u30a8\u30f3\u9178\u304c\u4e0a\u6607<\/strong>\u3059\u308b\uff08\u5c3f\u4e2d\u30af\u30a8\u30f3\u9178\u306f\u6b63\u5e38\uff09\u3002<strong>\u81e8\u5e8a\u7684\u306b\u304d\u308f\u3081\u3066\u7279\u5fb4\u7684\u306a\u306e\u306f\u6b6f\u306e\u7570\u5e38\uff08\u90e8\u5206\u7121\u6b6f\u75c7\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u5f62\u6210\u4e0d\u5168\uff09<\/strong>\u3067\u3001\u300c\u65b0\u751f\u5150\u767a\u75c7\u306e\u3066\u3093\u304b\u3093\uff0b\u6b6f\u304c\u751f\u3048\u306a\u3044\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u672c\u75c7\u3092\u5f37\u304f\u793a\u5506\u3059\u308b\u3002\u767a\u4f5c\u306f\u96e3\u6cbb\u6027\u3060\u304c\u3001\u77e5\u7684\u767a\u9054\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u308b\u4f8b\u3082\u3042\u308b\u3002\u30a2\u30bb\u30bf\u30be\u30e9\u30df\u30c9\u3084\u30c8\u30ea\u30d8\u30d7\u30bf\u30ce\u30a4\u30f3\u306e\u6709\u52b9\u6027\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>DEE\u5168\u822c\u306b\u304a\u3044\u3066\u3001<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\u306f\u6cbb\u7642\u9078\u629e\u306b\u76f4\u7d50\u3059\u308b<\/strong>\u3002\u4ee3\u8868\u4f8b\u3068\u3057\u3066\u3001SCN1A\uff08Dravet\u75c7\u5019\u7fa4\uff09\u3067\u306f\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u906e\u65ad\u85ac\u304c\u7981\u5fcc\u3001SCN2A\/SCN8A\u306e\u6a5f\u80fd\u7372\u5f97\u578b\u3067\u306f\u9006\u306b\u6709\u52b9\u3001KCNQ2\u3067\u306f\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\u7b49\u304c\u6709\u52b9\u3001ALDH7A1\uff08\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\u4f9d\u5b58\u6027\u3066\u3093\u304b\u3093\uff09\u3067\u306f\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\u304c\u5fc5\u9808\u3001GLUT1\u6b20\u640d\u75c7\u3067\u306f\u30b1\u30c8\u30f3\u98df\u304c\u7b2c\u4e00\u9078\u629e\u3001\u3068\u3044\u3063\u305f<strong>\u7cbe\u5bc6\u533b\u7642\uff08precision medicine\uff09<\/strong>\u304c\u5b9f\u8df5\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u3057\u305f\u304c\u3063\u3066\u3001\u539f\u56e0\u4e0d\u660e\u306e\u4e73\u5150\u767a\u75c7\u3066\u3093\u304b\u3093\u3067\u306f\u3001\u65e9\u671f\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u308b\u3002\u907a\u4f1d\u5b50\u304c\u5224\u660e\u3057\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u4ee3\u8b1d\u6027\u75be\u60a3\uff08\u3068\u304f\u306b\u6cbb\u7642\u53ef\u80fd\u306a\u3082\u306e\uff09\u306e\u9664\u5916\u306f\u5fc5\u9808\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u767a\u4f5c\u306f\u85ac\u3067\u6b62\u307e\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u6cbb\u7642\u306b\u62b5\u6297\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u75c5\u6c17\u3067\u3059\u304c\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u306f<strong>\u7279\u306b\u52b9\u304d\u3084\u3059\u3044\u85ac<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002\u3060\u304b\u3089\u3053\u305d\u3001\u539f\u56e0\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u306a\u305c\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u3001\u52b9\u304f\u85ac\u3068\u907f\u3051\u308b\u3079\u304d\u85ac\u304c\u9055\u3046<\/strong>\u305f\u3081\u3067\u3059\u3002\u65e9\u304f\u539f\u56e0\u304c\u5206\u304b\u308b\u3053\u3068\u3067\u3001\u3088\u308a\u9069\u3057\u305f\u6cbb\u7642\u3092\u9078\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u767a\u9054\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u767a\u4f5c\u304c\u767a\u9054\u3092\u59a8\u3052\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u81ea\u4f53\u3082\u767a\u9054\u306b\u5f71\u97ff\u3057\u307e\u3059\u3002\u767a\u4f5c\u3092\u6291\u3048\u308b\u3053\u3068\u3068\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u306e\u4e21\u65b9\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30b1\u30c8\u30f3\u98df\u306f\u52b9\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u6709\u52b9\u306a\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u539f\u56e0\u3084\u767a\u4f5c\u306e\u578b\u306b\u3088\u3063\u3066\u9069\u5fdc\u304c\u7570\u306a\u308a\u307e\u3059\u306e\u3067\u3001\u62c5\u5f53\u306e\u5148\u751f\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b6f\u304c\u751f\u3048\u3066\u304d\u307e\u305b\u3093\u3002<\/h3>\n\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u6b6f\u304c\u751f\u3048\u306a\u3044\u30fb\u6b6f\u306e\u5f62\u6210\u304c\u4e0d\u5341\u5206\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u3001\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u6b6f\u79d1\u3067\u306e\u5bfe\u5fdc\u3082\u3042\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Thevenon J, Milh M, Feillet F, et al. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. <em>Am J Hum Genet<\/em>. 2014;95(1):113-120.<\/li>\n\n\n\n<li>Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. <em>Epilepsia<\/em>. 2017;58(4):512-521.<\/li>\n\n\n\n<li>Specchio N, Wirrell EC, Scheffer IE, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood. <em>Epilepsia<\/em>. 2022;63(6):1398-1442.<\/li>\n\n\n\n<li>Happ HC, Carvill GL. A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies. <em>Epilepsy Curr<\/em>. 2020;20(2):90-96.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136821","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136821","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136821\/revisions"}],"predecessor-version":[{"id":137191,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136821\/revisions\/137191"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136821"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}