{"id":39228,"date":"2019-10-14T08:51:14","date_gmt":"2019-10-14T12:51:14","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39228-2\/"},"modified":"2024-01-29T10:00:34","modified_gmt":"2024-01-29T15:00:34","slug":"39228-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39228-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Le s\u00e9quen\u00e7age de l&#8217;exome entier \u00e9largit le spectre ph\u00e9notypique des \u00e9pilepsies p\u00e9diatriques rares : Une \u00e9tude r\u00e9trospective<\/strong><\/h2>\n<p>Article de recherche original de D.A. Dyment <em>et al.<\/em> (2014).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25046240\">ici<\/a>.<\/p>\n<p>FORGE (Finding Of Rare disease GEnes) et Care4Rare du Canada ont men\u00e9 une \u00e9tude sur les formes rares d&#8217;\u00e9pilepsie \u00e0 l&#8217;aide d&#8217;un panel de g\u00e8nes associ\u00e9s aux troubles de l&#8217;\u00e9pilepsie. Sur les neuf familles participantes, huit se sont r\u00e9v\u00e9l\u00e9es porteuses de diff\u00e9rentes mutations g\u00e9n\u00e9tiques associ\u00e9es \u00e0 l&#8217;\u00e9pilepsie. Chez une personne, une d\u00e9l\u00e9tion du g\u00e8ne SYNGAP1 a \u00e9t\u00e9 trouv\u00e9e. Cette personne pr\u00e9sentait une d\u00e9ficience intellectuelle, des probl\u00e8mes de coordination et une \u00e9pilepsie atonique et d&#8217;absence.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Le s\u00e9quen\u00e7age de l&#8217;exome entier \u00e9largit le spectre ph\u00e9notypique des \u00e9pilepsies p\u00e9diatriques rares : Une \u00e9tude r\u00e9trospective Article de recherche original de D.A. Dyment et al. (2014). Lire le r\u00e9sum\u00e9 ici. FORGE (Finding Of Rare disease GEnes) et Care4Rare du Canada ont men\u00e9 une \u00e9tude sur les formes rares d&#8217;\u00e9pilepsie \u00e0 l&#8217;aide d&#8217;un panel de [&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\/39228"}],"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=39228"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39228\/revisions"}],"predecessor-version":[{"id":39233,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39228\/revisions\/39233"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39228"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}