{"id":7822,"date":"2020-04-30T17:14:50","date_gmt":"2020-04-30T21:14:50","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=7822"},"modified":"2020-04-30T17:14:50","modified_gmt":"2020-04-30T21:14:50","slug":"intellectual-disability-without-epilepsy-associated-with-stxbp1-disruption","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/stxbp1-2-1\/intellectual-disability-without-epilepsy-associated-with-stxbp1-disruption\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Intellectual disability without epilepsy associated with STXBP1 disruption<\/strong><\/h2>\n<p>Original research article by Hamdan <em>et al.<\/em> (2011).<\/p>\n<p>Read the abstract <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21364700\" target=\"_blank\" rel=\"noopener\">here<\/a>.<\/p>\n<p>Following up on their previous research (Hamdan et al., 2009), Dr. Hamdan and his team sequenced samples from 50 new individuals with non-syndromic intellectual disability (NSID). They identified one 21-year-old individual with a\u00a0<em>de novo<\/em>\u00a0mutation (not found in either parent) in the\u00a0<em>STXBP1<\/em>gene. Unlike their previous findings (where two individuals were reported to have non-specific epilepsy were found to have\u00a0<em>STXBP1\u00a0<\/em>mutations), the newly identified individual did not have a reported history of epilepsy. He was reported to have a diagnosis of severe intellectual disability (ID), but had no history abnormal EEGs or brain imaging. The individual did not experience any muscle weakness (hypotonia), but did have a history of tremors. This finding supports the idea that the\u00a0<em>STXBP1\u00a0<\/em>gene may be linked to a wider range or spectrum of features than previously understood.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Intellectual disability without epilepsy associated with STXBP1 disruption Original research article by Hamdan et al. (2011). Read the abstract here. Following up on their previous research (Hamdan et al., 2009), Dr. Hamdan and his team sequenced samples from 50 new individuals with non-syndromic intellectual disability (NSID). They identified one 21-year-old individual with a\u00a0de novo\u00a0mutation (not [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":0,"parent":584,"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\/7822"}],"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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=7822"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/7822\/revisions"}],"predecessor-version":[{"id":7823,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/7822\/revisions\/7823"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/584"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=7822"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}