{"id":6015,"date":"2019-09-23T13:31:59","date_gmt":"2019-09-23T17:31:59","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6015"},"modified":"2019-09-24T11:27:09","modified_gmt":"2019-09-24T15:27:09","slug":"6015-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/chd2-2\/6015-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>De novo loss-of-function mutations in\u00a0<em>CHD2<\/em> cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet Syndrome<\/strong><\/h2>\n<p>Original research article by A. Suls\u00a0<em>et al.<\/em> (2013).<\/p>\n<p>Read the abstract <a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24207121\">here<\/a>.<\/p>\n<p>Dravet syndrome, typically caused by changes in the\u00a0<em>SCN1A\u00a0<\/em>gene, causes a form of infantile epilepsy that seizure medications often fail to treat. Seizures can occur especially when a child has a fever, and over time the child will experience cognitive decline. This study evaluated nine children who had a clinical diagnosis of Dravet syndrome but did not have a change in the gene typically associated with the condition.<\/p>\n<p>Changes in\u00a0<em>CHD2\u00a0<\/em>were found in three children from this group, and these changes may explain their seizure history. All three had intellectual disability, fever-sensitive seizures, and myoclonic seizures beginning age 2 or later. The three children in this study have mild intellectual disability, and one of the three children also has a diagnosis of autism.<\/p>\n<p>The researchers also compared the features of the children they evaluated with those of 13 children with\u00a0<em>CHD2\u00a0<\/em>changes who have been previously described. Several other children were also shorter than average and had a smaller-than-average head size.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>De novo loss-of-function mutations in\u00a0CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet Syndrome Original research article by A. Suls\u00a0et al. (2013). Read the abstract here. Dravet syndrome, typically caused by changes in the\u00a0SCN1A\u00a0gene, causes a form of infantile epilepsy that seizure medications often fail to treat. Seizures can occur especially when a [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":423,"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\/6015"}],"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=6015"}],"version-history":[{"count":2,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6015\/revisions"}],"predecessor-version":[{"id":6080,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6015\/revisions\/6080"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/423"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6015"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}