{"id":2624,"date":"2018-11-09T11:15:27","date_gmt":"2018-11-09T03:15:27","guid":{"rendered":"http:\/\/web.csh.org.tw\/web\/222010\/?p=2624"},"modified":"2018-11-09T11:15:27","modified_gmt":"2018-11-09T03:15:27","slug":"%e3%80%90%e5%b0%8f%e5%85%92%e7%a5%9e%e7%b6%93%e7%a7%91%e3%80%91%e5%85%92%e7%ab%a5%e7%99%b2%e7%99%87%e7%9a%84%e5%9f%ba%e5%9b%a0%e7%b2%be%e6%ba%96%e9%86%ab%e7%99%82","status":"publish","type":"post","link":"https:\/\/web.csh.org.tw\/web\/222010\/?p=2624","title":{"rendered":"\u3010\u5c0f\u5152\u795e\u7d93\u79d1\u3011\u5152\u7ae5\u7672\u7647\u7684\u57fa\u56e0\u7cbe\u6e96\u91ab\u7642"},"content":{"rendered":"<p><!--more--><\/p>\n<p style=\"text-align: right;\">\u6587\/\u5c0f\u5152\u795e\u7d93\u79d1 \u674e\u82f1\u9f4a 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epilepsy)\u8207\u4e0d\u660e\u539f\u56e0\u7672\u7647(idiopathic epilepsy)\uff0c\u5176\u4e2d\u4e0d\u660e\u539f\u56e0\u7672\u7647\u5b9a\u7fa9\u70ba\u7672\u7647\u767c\u4f5c\u7684\u539f\u56e0\uff0c\u70ba\u975e\u7531\u8166\u90e8\u7d50\u69cb\u7570\u5e38\u3001\u5916\u50b7\u6216\u611f\u67d3\u6240\u5f15\u8d77\u3002<\/p>\n<p>\u5728\u5152\u7ae5\u4e2d\uff0c\u4e0d\u660e\u539f\u56e0\u7672\u7647(idiopathic epilepsy)\u4f54\u5168\u90e8\u7672\u7647\u7d0460%\uff0c\u5176\u4e3b\u8981\u7684\u539f\u56e0\u70ba\u57fa\u56e0\u7a81\u8b8a\u5c0e\u81f4\u8166\u90e8\u7684\u75c5\u7406\u6027\u8b8a\u5316\u3002\u800c\u5c0e\u81f4\u7672\u7647\u7684\u539f\u56e0\u6aa2\u67e5\u4e0d\u6613\uff0c\u5373\u4f7f\u4f7f\u7528\u4e86\u5e38\u898f\u7684\u6aa2\u67e5\u65b9\u6cd5(\u81e8\u5e8a\u8868\u73fe\u3001\u7279\u6b8a\u751f\u5316\u6aa2\u67e5\u3001\u8166\u90e8\u6838\u78c1\u5171\u632f\u6aa2\u67e5)\u9664\u4e86\u9700\u8981\u8017\u8cbb\u5de8\u5927\u7684\u6642\u9593\u5916\uff0c\u539f\u56e0\u8a3a\u65b7\u7387\u7d04\u53ea\u670930%\u3002<\/p>\n<p>\u76ee\u524d\u6b21\u4e16\u4ee3\u5e8f\u5217\u6383\u63cf(next-generation sequencing)\u5df2\u61c9\u7528\u65bc\u81e8\u5e8a\u6aa2\u67e5\uff0c\u53ef\u6aa2\u51fa\u591a\u7a2e\u57fa\u56e0\u7a81\u8b8a\u7684\u5f62\u5f0f\u3002\u5152\u7ae5\u75c5\u60a3\u5176\u4e2d\u7d0440%\u5c6c\u65bc\u75c7\u72c0\u56b4\u91cd\u7684\u9811\u6027\u7672\u7647\uff0c\u5982\u679c\u80fd\u77e5\u9053\u57fa\u56e0\u7a81\u8b8a\u7684\u7d50\u679c\uff0c\u5c0d\u6cbb\u7642\u5f88\u6709\u52a9\u76ca\u3002<\/p>\n<p>\u5728\u904e\u53bb\u7684\u7814\u7a76\u4e2d\uff0c\u6211\u5011\u5df2\u7d93\u77e5\u9053\u56e0\u57fa\u56e0\u7a81\u8b8a\u800c\u5c0e\u81f4\u7672\u7647\u7684\uff0c\u5176\u4e2d\u8d85\u904e200\u500b\u57fa\u56e0\u8ddf\u7672\u7647\u6709\u95dc\uff0c\u800c\u96e2\u5b50\u901a\u9053\u57fa\u56e0\u5176\u4e2d\u975e\u5e38\u91cd\u8981\u7684\u8abf\u63a7\u57fa\u56e0\uff0c\u5305\u62ecKCNQ2\uff0cKCNQ3\uff0cSCN1A\uff0cSCN2A\uff0cSCN3A\uff0cCHRNA4\uff0cSLC2A1\u8207EFMR\u7b49\u7b49\u3002\u4ee5\u4e0b\u4ecb\u7d39\u5e7e\u500b\u7279\u6b8a\u7684\u57fa\u56e0\u6aa2\u67e5\uff0c\u4e26\u904b\u7528\u65bc\u7672\u7647\u7cbe\u6e96\u91ab\u7642\u7684\u5be6\u4f8b\u3002<\/p>\n<ol>\n<li>HLA1502 (\u5065\u4fdd\u7d66\u4ed8)\uff1a\u7672\u7647\u75c5\u4eba\u5728\u7528\u85e5\u4e4b\u524d\u61c9\u5148\u6aa2\u6e2c\uff0c\u907f\u514d\u85e5\u7269\u654f\u611f\u6027\u76ae\u75b9\u3002\u5e36\u6709HLA1502\u7684\u4eba\u7528\u67d0\u4e9b\u85e5\uff0c\u5982\u7672\u901a\uff0c\u6703\u76ae\u819a\u7d05\u75b9\u751a\u81f3\u6f70\u721b(\u53f2\u8482\u82ac\u5f37\u68ee\u75c7\u5019\u7fa4)\u3002<\/li>\n<li>KCNQ2\u3001SCN1A\u3001PRRT2\u3001ALDH7A1\u3001KCNT1\u3001SCN8A\u3001STXBP1\u7b49\uff0c\u82e5\u6aa2\u6e2c\u70ba\u967d\u6027\uff0c\u53ef\u9078\u64c7\u5c0d\u9019\u57fa\u56e0\u7a81\u8b8a\u6709\u6548\u7684\u85e5\u4f86\u6cbb\u7642\u3002\u5176\u4ed6\u57fa\u56e0\u5b9a\u5e8f\u6709\u4e09\u7a2e\u65b9\u6cd5\uff1a\u2460\u50b3\u7d71\u5b9a\u5e8f\u3001\u2461\u6b21\u4e16\u4ee3\u4e32\u806f(epileptic panel)\u5b9a\u5e8f\u3001\u2462\u5168\u57fa\u56e0\u6383\u63cf(whole exons sequencing)\uff0c\u4ee5\u4e0a\u6aa2\u67e5\u7686\u9808\u81ea\u8cbb\u3002\u5229\u7528\u57fa\u56e0\u6aa2\u67e5\uff0c\u627e\u51fa\u7672\u7647\u7684\u539f\u56e0\uff0c\u4e26\u7528\u85e5\u7269\u52a0\u4ee5\u6cbb\u7642\uff0c\u7a31\u70ba\u7cbe\u6e96\u91ab\u7642\u3002\u7672\u7647\u7684\u7cbe\u6e96\u91ab\u7642\u5982\u540c\u764c\u75c7\u7684\u6a19\u9776\u6cbb\u7642\u4e00\u6a23\uff0c\u53ef\u671b\u63d0\u4f9b\u7672\u7647\u6cbb\u7642\u7684\u65b0\u6a21\u5f0f\u3002<\/li>\n<li>\u800c\u5c0d\u65bc\u57fa\u56e0\u7684\u6aa2\u67e5\u7d50\u679c\u9808\u7531\u5c08\u696d\u7684\u91ab\u5e2b\u4f86\u505a\u81e8\u5e8a\u4e0a\u7684\u76f8\u95dc\u5224\u65b7\uff0c\u751a\u81f3\u9700\u8981\u7236\u6bcd\u7684\u8a73\u7d30\u75c5\u53f2\u6216\u57fa\u56e0\u7684\u9451\u5b9a\uff0c\u624d\u80fd\u63d0\u4f9b\u7672\u7647\u75c5\u60a3\u7684\u85e5\u7269\u6cbb\u7642\u66f4\u5927\u7684\u52a9\u76ca\u3002<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[13],"tags":[],"class_list":["post-2624","post","type-post","status-publish","format-standard","hentry","category-doc-heaedu"],"_links":{"self":[{"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/posts\/2624"}],"collection":[{"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=2624"}],"version-history":[{"count":1,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/posts\/2624\/revisions"}],"predecessor-version":[{"id":2627,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/posts\/2624\/revisions\/2627"}],"wp:attachment":[{"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=2624"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=2624"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=2624"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}