{"id":18714,"date":"2019-10-14T08:51:14","date_gmt":"2019-10-14T12:51:14","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/18714-2\/"},"modified":"2023-10-18T11:40:50","modified_gmt":"2023-10-18T15:40:50","slug":"18714-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/es\/18714-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>La secuenciaci\u00f3n del exoma completo ampl\u00eda el espectro fenot\u00edpico de la epilepsia pedi\u00e1trica rara: Un estudio retrospectivo<\/strong><\/h2>\n<p>Art\u00edculo de investigaci\u00f3n original de D.A. Dyment <em>et al.<\/em> (2014).<\/p>\n<p>Lea el resumen <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25046240\">aqu\u00ed<\/a>.<\/p>\n<p>FORGE (Finding Of Rare disease GEnes) y Care4Rare de Canad\u00e1 realizaron un estudio que examinaba formas raras de epilepsia con un panel de genes asociados a trastornos epil\u00e9pticos. De las nueve familias que participaron, ocho presentaban distintas mutaciones gen\u00e9ticas asociadas a la epilepsia. En una persona, se encontr\u00f3 una deleci\u00f3n en el gen SYNGAP1. Esta persona ten\u00eda discapacidad intelectual, problemas de coordinaci\u00f3n y epilepsia at\u00f3nica y de ausencia.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La secuenciaci\u00f3n del exoma completo ampl\u00eda el espectro fenot\u00edpico de la epilepsia pedi\u00e1trica rara: Un estudio retrospectivo Art\u00edculo de investigaci\u00f3n original de D.A. Dyment et al. (2014). Lea el resumen aqu\u00ed. FORGE (Finding Of Rare disease GEnes) y Care4Rare de Canad\u00e1 realizaron un estudio que examinaba formas raras de epilepsia con un panel de genes [&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\/18714"}],"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=18714"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/pages\/18714\/revisions"}],"predecessor-version":[{"id":18718,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/pages\/18714\/revisions\/18718"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/media?parent=18714"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}