{"id":39225,"date":"2019-10-14T15:28:01","date_gmt":"2019-10-14T19:28:01","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39225-2\/"},"modified":"2024-01-29T10:00:34","modified_gmt":"2024-01-29T15:00:34","slug":"39225-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39225-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>S\u00e9quen\u00e7age clinique de l&#8217;exome entier dans la pratique de la neurologie infantile<\/strong><\/h2>\n<p>Article de recherche original de S. Srivastava <em>et al.<\/em> (2014).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25131622\">ici<\/a>.<\/p>\n<p>78 personnes pr\u00e9sentant un retard de d\u00e9veloppement, une d\u00e9ficience intellectuelle, une infirmit\u00e9 motrice c\u00e9r\u00e9brale ou un autisme ont subi un s\u00e9quen\u00e7age de l&#8217;exome entier dans le cadre de cette \u00e9tude. Une mutation du g\u00e8ne SCN2A a \u00e9t\u00e9 identifi\u00e9e chez un des participants \u00e0 l&#8217;\u00e9tude. La personne d\u00e9crite dans cette \u00e9tude (\u00e2g\u00e9e de 18 ans au moment du diagnostic g\u00e9n\u00e9tique) n&#8217;avait jamais \u00e9t\u00e9 diagnostiqu\u00e9e comme souffrant d&#8217;une d\u00e9ficience intellectuelle ou d&#8217;autisme, mais on a constat\u00e9 qu&#8217;elle souffrait d&#8217;enc\u00e9phalopathie \u00e9pileptique.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>S\u00e9quen\u00e7age clinique de l&#8217;exome entier dans la pratique de la neurologie infantile Article de recherche original de S. Srivastava et al. (2014). Lire le r\u00e9sum\u00e9 ici. 78 personnes pr\u00e9sentant un retard de d\u00e9veloppement, une d\u00e9ficience intellectuelle, une infirmit\u00e9 motrice c\u00e9r\u00e9brale ou un autisme ont subi un s\u00e9quen\u00e7age de l&#8217;exome entier dans le cadre de cette [&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\/39225"}],"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=39225"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39225\/revisions"}],"predecessor-version":[{"id":39230,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39225\/revisions\/39230"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39225"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}