{"id":6473,"date":"2019-10-14T15:17:31","date_gmt":"2019-10-14T19:17:31","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6473"},"modified":"2019-10-14T15:17:31","modified_gmt":"2019-10-14T19:17:31","slug":"6473-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/scn2a-2\/6473-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>De novo <em>SCN2A<\/em> splice site mutation in a boy with autism spectrum disorder<\/strong><\/h2>\n<p>Original case report by T. Tavassoli\u00a0<em>et al.<\/em> (2014).<\/p>\n<p>Read the report <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3994485\/pdf\/1471-2350-15-35.pdf\">here<\/a>.<\/p>\n<p>This article details behaviors and clinical findings in a seven-year-old boy with a\u00a0<i><em>SCN2A<\/em><\/i>\u00a0genetic change (mutation). As a gene highly expressed in the brain, mutations in\u00a0<i><em>SCN2A<\/em><\/i>\u00a0have been linked to autism, as well as intellectual disability, ataxia, and epilepsy. The individual in this paper exhibited a\u00a0<i><em>de novo<\/em><\/i>, or \u201cnew,\u201dmutation of the\u00a0<i><em>SCN2A<\/em><\/i>\u00a0gene which results in a portion of the gene being deleted. Over a period of four years, researchers noted that the child exhibited distinct facial features, social and language impairments, and motor delays. He was clinically diagnosed with autism spectrum disorder (ASD). Of interest, he was not found to have any history of seizures (although late onset cannot be ruled out). While the boy\u2019s specific mutation is not currently linked to autism, this study, as well as future research, may suggest that it may be a contributing factor.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>De novo SCN2A splice site mutation in a boy with autism spectrum disorder Original case report by T. Tavassoli\u00a0et al. (2014). Read the report here. This article details behaviors and clinical findings in a seven-year-old boy with a\u00a0SCN2A\u00a0genetic change (mutation). As a gene highly expressed in the brain, mutations in\u00a0SCN2A\u00a0have been linked to autism, as [&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\/6473"}],"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=6473"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6473\/revisions"}],"predecessor-version":[{"id":6474,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6473\/revisions\/6474"}],"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=6473"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}