{"id":38821,"date":"2020-04-30T17:14:50","date_gmt":"2020-04-30T21:14:50","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/38821-2\/"},"modified":"2024-01-29T09:59:07","modified_gmt":"2024-01-29T14:59:07","slug":"38821-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/38821-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>D\u00e9ficience intellectuelle sans \u00e9pilepsie associ\u00e9e \u00e0 une perturbation de STXBP1<\/strong><\/h2>\n<p>Article de recherche original de Hamdan <em>et al.<\/em> (2011).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21364700\" target=\"_blank\" rel=\"noopener\">ici<\/a>.<\/p>\n<p>Dans le prolongement de leurs recherches pr\u00e9c\u00e9dentes (Hamdan et al., 2009), le Dr Hamdan et son \u00e9quipe ont s\u00e9quenc\u00e9 des \u00e9chantillons de 50 nouvelles personnes atteintes de d\u00e9ficience intellectuelle non syndromique (NSID). Ils ont identifi\u00e9 un individu de 21 ans pr\u00e9sentant une mutation de <em>novo<\/em> (non trouv\u00e9e chez l&#8217;un ou l&#8217;autre parent) dans le <em>g\u00e8ne STXBP1<\/em>. Contrairement \u00e0 leurs r\u00e9sultats pr\u00e9c\u00e9dents (o\u00f9 deux personnes signal\u00e9es comme souffrant d&#8217;une \u00e9pilepsie non sp\u00e9cifique se sont av\u00e9r\u00e9es pr\u00e9senter des mutations <em>STXBP1 <\/em>), la personne nouvellement identifi\u00e9e n&#8217;avait pas d&#8217;ant\u00e9c\u00e9dents d&#8217;\u00e9pilepsie signal\u00e9s. Il a \u00e9t\u00e9 signal\u00e9 comme ayant un diagnostic de d\u00e9ficience intellectuelle (DI) s\u00e9v\u00e8re, mais n&#8217;avait pas d&#8217;ant\u00e9c\u00e9dents d&#8217;EEG anormaux ou d&#8217;imagerie c\u00e9r\u00e9brale. L&#8217;individu n&#8217;a pas ressenti de faiblesse musculaire (hypotonie), mais a des ant\u00e9c\u00e9dents de tremblements. Cette d\u00e9couverte confirme l&#8217;id\u00e9e que le g\u00e8ne <em>STXBP1 <\/em>peut \u00eatre li\u00e9 \u00e0 une gamme ou \u00e0 un spectre de caract\u00e9ristiques plus large que ce que l&#8217;on pensait jusqu&#8217;\u00e0 pr\u00e9sent.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>D\u00e9ficience intellectuelle sans \u00e9pilepsie associ\u00e9e \u00e0 une perturbation de STXBP1 Article de recherche original de Hamdan et al. (2011). Lire le r\u00e9sum\u00e9 ici. Dans le prolongement de leurs recherches pr\u00e9c\u00e9dentes (Hamdan et al., 2009), le Dr Hamdan et son \u00e9quipe ont s\u00e9quenc\u00e9 des \u00e9chantillons de 50 nouvelles personnes atteintes de d\u00e9ficience intellectuelle non syndromique (NSID). [&hellip;]<\/p>\n","protected":false},"author":6,"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\/38821"}],"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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=38821"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38821\/revisions"}],"predecessor-version":[{"id":38825,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38821\/revisions\/38825"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38821"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}