{"id":18753,"date":"2019-10-14T15:28:01","date_gmt":"2019-10-14T19:28:01","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/18753-2\/"},"modified":"2023-10-18T11:40:53","modified_gmt":"2023-10-18T15:40:53","slug":"18753-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/es\/18753-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Secuenciaci\u00f3n cl\u00ednica del exoma completo en la pr\u00e1ctica de la neurolog\u00eda infantil<\/strong><\/h2>\n<p>Art\u00edculo de investigaci\u00f3n original de S. Srivastava <em>et al.<\/em> (2014).<\/p>\n<p>Lea el resumen <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25131622\">aqu\u00ed<\/a>.<\/p>\n<p>78 personas con retraso del desarrollo (DD), discapacidad intelectual (DI), par\u00e1lisis cerebral (PC) o autismo (TEA) fueron sometidas a secuenciaci\u00f3n del exoma completo como parte de este estudio. Se identific\u00f3 que un individuo del estudio ten\u00eda una mutaci\u00f3n SCN2A. El individuo descrito en este estudio (de 18 a\u00f1os en el momento del diagn\u00f3stico gen\u00e9tico) nunca hab\u00eda sido diagnosticado ni de discapacidad intelectual ni de autismo, pero se observ\u00f3 que padec\u00eda encefalopat\u00eda epil\u00e9ptica.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Secuenciaci\u00f3n cl\u00ednica del exoma completo en la pr\u00e1ctica de la neurolog\u00eda infantil Art\u00edculo de investigaci\u00f3n original de S. Srivastava et al. (2014). Lea el resumen aqu\u00ed. 78 personas con retraso del desarrollo (DD), discapacidad intelectual (DI), par\u00e1lisis cerebral (PC) o autismo (TEA) fueron sometidas a secuenciaci\u00f3n del exoma completo como parte de este estudio. Se [&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\/18753"}],"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=18753"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/pages\/18753\/revisions"}],"predecessor-version":[{"id":18759,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/pages\/18753\/revisions\/18759"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/media?parent=18753"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}