{"id":39244,"date":"2019-10-14T15:37:59","date_gmt":"2019-10-14T19:37:59","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39244-2\/"},"modified":"2024-01-29T10:00:36","modified_gmt":"2024-01-29T15:00:36","slug":"39244-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39244-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Le res\u00e9quen\u00e7age cibl\u00e9 dans les enc\u00e9phalopathies \u00e9pileptiques identifie des mutations de novo dans <em>CHD2 <\/em>et <em>SYNGAP1<\/em><\/strong><\/h2>\n<p>Article de recherche original de G.L. Carvill <em>et al.<\/em> (2013).<\/p>\n<p>Lire l&#8217;article <a href=\"http:\/\/www.nature.com\/ng\/journal\/v45\/n7\/full\/ng.2646.html\">ici<\/a>.<\/p>\n<p>Cette \u00e9tude visait \u00e0 caract\u00e9riser l&#8217;origine g\u00e9n\u00e9tique des enfants souffrant de troubles \u00e9pileptiques. Bien qu&#8217;il ait d\u00e9j\u00e0 \u00e9t\u00e9 d\u00e9montr\u00e9 que les modifications du SCN2A peuvent provoquer des crises tr\u00e8s t\u00f4t dans la vie, les enfants de cette \u00e9tude pr\u00e9sentaient des diff\u00e9rences dans le moment o\u00f9 leurs crises ont commenc\u00e9. Pour certains, les crises ont commenc\u00e9 dans les premi\u00e8res heures de vie (3 enfants), et pour d&#8217;autres, elles ont commenc\u00e9 apr\u00e8s quelques semaines (2 enfants). Les cinq enfants atteints de modifications du SCN2A dans cette \u00e9tude pr\u00e9sentaient tous un certain degr\u00e9 d&#8217;implication intellectuelle.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Le res\u00e9quen\u00e7age cibl\u00e9 dans les enc\u00e9phalopathies \u00e9pileptiques identifie des mutations de novo dans CHD2 et SYNGAP1 Article de recherche original de G.L. Carvill et al. (2013). Lire l&#8217;article ici. Cette \u00e9tude visait \u00e0 caract\u00e9riser l&#8217;origine g\u00e9n\u00e9tique des enfants souffrant de troubles \u00e9pileptiques. Bien qu&#8217;il ait d\u00e9j\u00e0 \u00e9t\u00e9 d\u00e9montr\u00e9 que les modifications du SCN2A peuvent provoquer [&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\/39244"}],"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=39244"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39244\/revisions"}],"predecessor-version":[{"id":39246,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39244\/revisions\/39246"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39244"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}