{"id":18766,"date":"2019-10-14T15:31:17","date_gmt":"2019-10-14T19:31:17","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/18766-2\/"},"modified":"2023-10-18T11:40:53","modified_gmt":"2023-10-18T15:40:53","slug":"18766-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/es\/18766-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Mutaciones de novo en las encefalopat\u00edas epil\u00e9pticas cl\u00e1sicas<\/strong><\/h2>\n<p>Art\u00edculo de investigaci\u00f3n original de Epi4K Consortium <em>et al.<\/em> (2013).<\/p>\n<p>Lea el art\u00edculo <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3773011\/\">aqu\u00ed<\/a>.<\/p>\n<p>Se secuenciaron los exomas (1% de todo el genoma) de 264 \u00abtr\u00edos\u00bb (ni\u00f1o y ambos padres) para buscar una causa gen\u00e9tica de los espasmos infantiles y otro trastorno convulsivo llamado \u00abs\u00edndrome de Lennox-Gastaut\u00bb. Este estudio identific\u00f3 m\u00e1s de 300 cambios gen\u00e9ticos de novo (no heredados de ninguno de los progenitores) en 9 genes, incluidos 2 pacientes con variantes en <i><br \/>\n  <em>SCN2A<\/em><br \/>\n<\/i>. Se necesita m\u00e1s investigaci\u00f3n e informaci\u00f3n para determinar la asociaci\u00f3n entre <i><br \/>\n  <em>SCN2A<\/em><br \/>\n<\/i> y el s\u00edndrome de Lennox-Gastaut.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutaciones de novo en las encefalopat\u00edas epil\u00e9pticas cl\u00e1sicas Art\u00edculo de investigaci\u00f3n original de Epi4K Consortium et al. (2013). Lea el art\u00edculo aqu\u00ed. Se secuenciaron los exomas (1% de todo el genoma) de 264 \u00abtr\u00edos\u00bb (ni\u00f1o y ambos padres) para buscar una causa gen\u00e9tica de los espasmos infantiles y otro trastorno convulsivo llamado \u00abs\u00edndrome de Lennox-Gastaut\u00bb. [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/pages\/18766"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/comments?post=18766"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/pages\/18766\/revisions"}],"predecessor-version":[{"id":18772,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/pages\/18766\/revisions\/18772"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/media?parent=18766"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}