{"id":6142,"date":"2019-09-25T13:18:10","date_gmt":"2019-09-25T17:18:10","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6142"},"modified":"2019-09-25T13:18:10","modified_gmt":"2019-09-25T17:18:10","slug":"6142-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/grin2a\/6142-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>GRIN2A mutation and early-onset epileptic encephalopathy: Personalized therapy with memantine<\/strong><\/h2>\n<p>Original research article by T.M. Pierson <em>et al.<\/em> (2014)<\/p>\n<p>Read the article <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4019449\/pdf\/acn30001-0190.pdf\">here<\/a>.<\/p>\n<p>The\u00a0GRIN2A<em>\u00a0<\/em>gene encodes for proteins that are linked to signaling pathways in the brain. These proteins have an important role in brain development, learning and memory, and signaling within the brain.\u00a0GRIN2A\u00a0has been associated with diagnoses of epilepsy, developmental delay, and intellectual disability.<\/p>\n<p>In this article, researchers describe one child with a\u00a0de novo\u00a0change (a change not found in either parent) in the\u00a0GRIN2A gene. Identified through the National Institutes of Health (NIH) Undiagnosed Diseases program, the 6-year-old boy had a history of early-onset epileptic encephalopathy and profound global developmental delay, having not reached any developmental milestones. He was reported to have daily seizures that did not respond to medication. His brain MRI showed a loss of volume and brain tissue.<\/p>\n<p>The researchers suggest that the change in GRIN2A has hindered the ability of the proteins associated with\u00a0the gene\u00a0to function properly. The study suggests that it may be reasonable to consider a broad genetic test, such as whole-exome sequencing, to analyze genes not typically included in targeted panels.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>GRIN2A mutation and early-onset epileptic encephalopathy: Personalized therapy with memantine Original research article by T.M. Pierson et al. (2014) Read the article here. The\u00a0GRIN2A\u00a0gene encodes for proteins that are linked to signaling pathways in the brain. These proteins have an important role in brain development, learning and memory, and signaling within the brain.\u00a0GRIN2A\u00a0has been associated [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":499,"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\/6142"}],"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=6142"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6142\/revisions"}],"predecessor-version":[{"id":6143,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6142\/revisions\/6143"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/499"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6142"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}