{"id":38712,"date":"2019-09-23T13:39:28","date_gmt":"2019-09-23T17:39:28","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/38712-2\/"},"modified":"2024-01-29T09:58:57","modified_gmt":"2024-01-29T14:58:57","slug":"38712-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/38712-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Mutations de novo dans les enc\u00e9phalopathies \u00e9pileptiques classiques<\/strong><\/h2>\n<p>Article de recherche original des chercheurs d&#8217;Epi4K et d&#8217;EPGP.<\/p>\n<p>Lire l&#8217;article <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3773011\/\">ici<\/a>.<\/p>\n<p>Les exomes, qui repr\u00e9sentent 1 % du g\u00e9nome, de 264 &#8220;trios&#8221; (un enfant \u00e9pileptique et ses deux parents biologiques) ont \u00e9t\u00e9 s\u00e9quenc\u00e9s afin de rechercher une cause g\u00e9n\u00e9tique aux spasmes infantiles et \u00e0 un autre trouble \u00e9pileptique appel\u00e9 syndrome de Lennox-Gastaut. Cette \u00e9tude a mis en \u00e9vidence plus de 300 modifications g\u00e9n\u00e9tiques qui n&#8217;\u00e9taient h\u00e9rit\u00e9es d&#8217;aucun des parents, y compris une modification de la <em>CHD2<\/em> chez un enfant. Cet enfant avait des crises myocloniques depuis l&#8217;\u00e2ge de 6 mois et pr\u00e9sentait un retard de d\u00e9veloppement.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutations de novo dans les enc\u00e9phalopathies \u00e9pileptiques classiques Article de recherche original des chercheurs d&#8217;Epi4K et d&#8217;EPGP. Lire l&#8217;article ici. Les exomes, qui repr\u00e9sentent 1 % du g\u00e9nome, de 264 &#8220;trios&#8221; (un enfant \u00e9pileptique et ses deux parents biologiques) ont \u00e9t\u00e9 s\u00e9quenc\u00e9s afin de rechercher une cause g\u00e9n\u00e9tique aux spasmes infantiles et \u00e0 un autre [&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\/fr\/wp-json\/wp\/v2\/pages\/38712"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=38712"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38712\/revisions"}],"predecessor-version":[{"id":38715,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38712\/revisions\/38715"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38712"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}