{"id":39250,"date":"2019-10-14T15:40:45","date_gmt":"2019-10-14T19:40:45","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39250-2\/"},"modified":"2024-01-29T10:00:37","modified_gmt":"2024-01-29T15:00:37","slug":"39250-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39250-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Gamme de mutations g\u00e9n\u00e9tiques associ\u00e9es \u00e0 la d\u00e9ficience intellectuelle sporadique non syndromique s\u00e9v\u00e8re : une \u00e9tude de s\u00e9quen\u00e7age de l&#8217;exome<\/strong><\/h2>\n<p>Article de recherche original de Rauch <em>et al.<\/em> (2012).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23020937\">ici<\/a>.<\/p>\n<p>Le g\u00e8ne SCN2A joue un r\u00f4le important dans le d\u00e9veloppement du cerveau. Des modifications de ce g\u00e8ne ont d\u00e9j\u00e0 \u00e9t\u00e9 associ\u00e9es \u00e0 des troubles \u00e9pileptiques et \u00e0 des diff\u00e9rences intellectuelles significatives. Dans cette \u00e9tude, les enfants pr\u00e9sentant des modifications du g\u00e8ne SCN2A ne souffraient pas de troubles \u00e9pileptiques. Ces enfants pr\u00e9sentaient plut\u00f4t des diff\u00e9rences intellectuelles, des probl\u00e8mes de comportement et des diff\u00e9rences subtiles dans leurs traits faciaux. Un enfant pr\u00e9sentant une modification du SCN2A pr\u00e9sentait \u00e9galement quelques caract\u00e9ristiques de l&#8217;autisme. Les modifications de ce g\u00e8ne ne sont pas souvent h\u00e9r\u00e9ditaires.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Gamme de mutations g\u00e9n\u00e9tiques associ\u00e9es \u00e0 la d\u00e9ficience intellectuelle sporadique non syndromique s\u00e9v\u00e8re : une \u00e9tude de s\u00e9quen\u00e7age de l&#8217;exome Article de recherche original de Rauch et al. (2012). Lire le r\u00e9sum\u00e9 ici. Le g\u00e8ne SCN2A joue un r\u00f4le important dans le d\u00e9veloppement du cerveau. Des modifications de ce g\u00e8ne ont d\u00e9j\u00e0 \u00e9t\u00e9 associ\u00e9es \u00e0 [&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\/39250"}],"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=39250"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39250\/revisions"}],"predecessor-version":[{"id":39252,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39250\/revisions\/39252"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39250"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}