{"id":39201,"date":"2019-10-14T15:00:52","date_gmt":"2019-10-14T19:00:52","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39201-2\/"},"modified":"2024-01-29T10:00:33","modified_gmt":"2024-01-29T15:00:33","slug":"39201-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39201-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Enc\u00e9phalopathie \u00e9pileptique pr\u00e9coce inexpliqu\u00e9e : d\u00e9pistage de l&#8217;exome et expansion du ph\u00e9notype<\/strong><\/h2>\n<p>Article de recherche original de N.M. Allen <em>et al.<\/em> (2016).<\/p>\n<p>Lire l&#8217;article <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/epdf\/10.1111\/epi.13250\">ici<\/a>.<\/p>\n<p>Le s\u00e9quen\u00e7age de l&#8217;exome entier a \u00e9t\u00e9 effectu\u00e9 sur 50 enfants atteints d&#8217;enc\u00e9phalopathies \u00e9pileptiques pr\u00e9coces inexpliqu\u00e9es (EOEE), afin de cibler les g\u00e8nes associ\u00e9s \u00e0 l&#8217;\u00e9pilepsie. L&#8217;enc\u00e9phalopathie \u00e9pileptique peut avoir un impact sur le d\u00e9veloppement neurologique et peut \u00eatre li\u00e9e \u00e0 des troubles cognitifs et comportementaux. Cette \u00e9tude a permis d&#8217;identifier des modifications g\u00e9n\u00e9tiques \u00e0 l&#8217;origine de la maladie chez 11 enfants, dont l&#8217;un s&#8217;est av\u00e9r\u00e9 \u00eatre atteint d&#8217;un nouveau g\u00e8ne (<i><br \/>\n  <em>de novo<\/em><br \/>\n<\/i>) dans le g\u00e8ne <i><br \/>\n  <em>SCN2A<\/em><br \/>\n<\/i> . L&#8217;enfant pr\u00e9sentait des anomalies c\u00e9r\u00e9brales depuis la naissance, une d\u00e9ficience intellectuelle s\u00e9v\u00e8re, un tonus musculaire anormal et des crises d&#8217;\u00e9pilepsie \u00e0 l&#8217;\u00e9tat de veille et de sommeil. De futures \u00e9tudes visant \u00e0 \u00e9tablir une liste de g\u00e8nes associ\u00e9s aux EOEE gr\u00e2ce au s\u00e9quen\u00e7age de l&#8217;exome entier permettront aux cliniciens de proposer des th\u00e9rapies sp\u00e9cifiques aux patients et d&#8217;am\u00e9liorer le traitement global.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Enc\u00e9phalopathie \u00e9pileptique pr\u00e9coce inexpliqu\u00e9e : d\u00e9pistage de l&#8217;exome et expansion du ph\u00e9notype Article de recherche original de N.M. Allen et al. (2016). Lire l&#8217;article ici. Le s\u00e9quen\u00e7age de l&#8217;exome entier a \u00e9t\u00e9 effectu\u00e9 sur 50 enfants atteints d&#8217;enc\u00e9phalopathies \u00e9pileptiques pr\u00e9coces inexpliqu\u00e9es (EOEE), afin de cibler les g\u00e8nes associ\u00e9s \u00e0 l&#8217;\u00e9pilepsie. L&#8217;enc\u00e9phalopathie \u00e9pileptique peut avoir un [&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\/39201"}],"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=39201"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39201\/revisions"}],"predecessor-version":[{"id":39206,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39201\/revisions\/39206"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39201"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}