{"id":6448,"date":"2019-10-14T08:51:14","date_gmt":"2019-10-14T12:51:14","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6448"},"modified":"2019-10-14T08:51:14","modified_gmt":"2019-10-14T12:51:14","slug":"6448-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/syngap1-old\/6448-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: A retrospective study<\/strong><\/h2>\n<p>Original research article by D.A. Dyment\u00a0<em>et al.<\/em> (2014).<\/p>\n<p>Read the abstract <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25046240\">here<\/a>.<\/p>\n<p>FORGE (Finding Of Rare disease GEnes) and Care4Rare from Canada conducted a study that examined rare forms of epilepsy with a panel of genes associated with epilepsy disorders.\u00a0 Of the nine families who participated, eight were found to have different genetic mutations associated with epilepsy.\u00a0 In one person, a deletion in the SYNGAP1 gene was found. This person had intellectual disability, coordination issues, and absence and atonic epilepsy.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: A retrospective study Original research article by D.A. Dyment\u00a0et al. (2014). Read the abstract here. FORGE (Finding Of Rare disease GEnes) and Care4Rare from Canada conducted a study that examined rare forms of epilepsy with a panel of genes associated with epilepsy disorders.\u00a0 Of the [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":588,"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\/6448"}],"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=6448"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6448\/revisions"}],"predecessor-version":[{"id":6449,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6448\/revisions\/6449"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/588"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6448"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}