{"id":6479,"date":"2019-10-14T15:31:17","date_gmt":"2019-10-14T19:31:17","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6479"},"modified":"2019-10-14T15:31:17","modified_gmt":"2019-10-14T19:31:17","slug":"6479-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/scn2a-2\/6479-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>De novo mutations in the classic epileptic encephalopathies<\/strong><\/h2>\n<p>Original research article by Epi4K Consortium\u00a0<em>et al.<\/em> (2013).<\/p>\n<p>Read the article <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3773011\/\">here<\/a>.<\/p>\n<p>The exomes (1% of the entire genome) of 264 \u201ctrios\u201d (child and both parents) were sequenced to seek a genetic cause for infantile spasms and another seizure disorder called \u201cLennox-Gastaut syndrome.\u201d This study identified over 300 de novo (not inherited from either parent) gene changes in 9 genes, including 2 patients with variants in\u00a0<i><em>SCN2A<\/em><\/i>. More research and information is needed to determine the association between\u00a0<i><em>SCN2A<\/em><\/i>\u00a0and Lennox-Gastaut syndrome.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>De novo mutations in the classic epileptic encephalopathies Original research article by Epi4K Consortium\u00a0et al. (2013). Read the article here. The exomes (1% of the entire genome) of 264 \u201ctrios\u201d (child and both parents) were sequenced to seek a genetic cause for infantile spasms and another seizure disorder called \u201cLennox-Gastaut syndrome.\u201d This study identified over [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":559,"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\/wp-json\/wp\/v2\/pages\/6479"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=6479"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6479\/revisions"}],"predecessor-version":[{"id":6480,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6479\/revisions\/6480"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/559"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6479"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}