{"id":39238,"date":"2019-10-14T15:31:17","date_gmt":"2019-10-14T19:31:17","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39238-2\/"},"modified":"2024-01-29T10:00:35","modified_gmt":"2024-01-29T15:00:35","slug":"39238-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39238-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Mutations de novo dans les enc\u00e9phalopathies \u00e9pileptiques classiques<\/strong><\/h2>\n<p>Article de recherche original par Epi4K Consortium <em>et al.<\/em> (2013).<\/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 (1 % du g\u00e9nome entier) de 264 &#8220;trios&#8221; (l&#8217;enfant et ses deux parents) ont \u00e9t\u00e9 s\u00e9quenc\u00e9s pour rechercher une cause g\u00e9n\u00e9tique aux spasmes infantiles et \u00e0 un autre trouble \u00e9pileptique appel\u00e9 &#8220;syndrome de Lennox-Gastaut&#8221;. Cette \u00e9tude a permis d&#8217;identifier plus de 300 modifications g\u00e9n\u00e9tiques de novo (non h\u00e9rit\u00e9es de l&#8217;un ou l&#8217;autre parent) dans 9 g\u00e8nes, dont 2 patients pr\u00e9sentant des variantes dans le g\u00e8ne <i><br \/>\n  <em>SCN2A<\/em><br \/>\n<\/i>. Davantage de recherches et d&#8217;informations sont n\u00e9cessaires pour d\u00e9terminer l&#8217;association entre les g\u00e8nes <i><br \/>\n  <em>SCN2A<\/em><br \/>\n<\/i> et le syndrome de Lennox-Gastaut.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutations de novo dans les enc\u00e9phalopathies \u00e9pileptiques classiques Article de recherche original par Epi4K Consortium et al. (2013). Lire l&#8217;article ici. Les exomes (1 % du g\u00e9nome entier) de 264 &#8220;trios&#8221; (l&#8217;enfant et ses deux parents) ont \u00e9t\u00e9 s\u00e9quenc\u00e9s pour rechercher une cause g\u00e9n\u00e9tique aux spasmes infantiles et \u00e0 un autre trouble \u00e9pileptique appel\u00e9 &#8220;syndrome [&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\/39238"}],"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=39238"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39238\/revisions"}],"predecessor-version":[{"id":39240,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39238\/revisions\/39240"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39238"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}