{"id":7805,"date":"2020-04-30T16:24:22","date_gmt":"2020-04-30T20:24:22","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=7805"},"modified":"2020-05-28T17:34:08","modified_gmt":"2020-05-28T21:34:08","slug":"stxbp1-encephalopathy","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/stxbp1-2-1\/stxbp1-encephalopathy\/","title":{"rendered":""},"content":{"rendered":"

STXBP1 Encephalopathy<\/strong><\/h2>\n

Original research article by Stamberger et al<\/em>. (2016).<\/p>\n

Read the abstract here<\/a>.<\/p>\n

The\u00a0STXBP1<\/em><\/i>\u00a0gene has a role in brain signaling and is most commonly linked with Ohtahara syndrome, a syndrome characterized by seizures and EEG (electroencephalograms) abnormalities presenting in infancy. As access to and uptake of genetic testing has increased, researchers have identified new gene changes (mutations) in the\u00a0STXBP1<\/em><\/i>\u00a0gene, allowing us to broaden our understanding of the range of features associated with\u00a0STXBP1<\/em><\/i>.<\/p>\n

In this article, Dr. Stamberger and her team identified 45 individuals with\u00a0STXBP1\u00a0<\/em><\/i>mutations through research and diagnostic populations. They performed a literature review of current\u00a0STXBP1<\/em><\/i>\u00a0research and compared the observed features in the newly-identified 45 individuals with 102 other individuals with\u00a0STXBP1<\/em><\/i>\u00a0mutations who were previously published in other research articles.<\/p>\n

Ranging from 6 months to 56 years in age, researchers compared diagnoses (see below) and features observed in the 147 individuals with\u00a0STXBP1\u00a0<\/em><\/i>mutations. All 147 individuals were reported as having some degree of intellectual disability (ID), with approximately 88.4% categorized as severe or profound ID. The majority of individuals (approximately 95%) were found to have an epilepsy-related diagnosis, with onset early in life, which likely prompted genetic testing in the first place. Over 60% of those diagnosed with a form of epilepsy have a history of abnormal EEGs. Autism was observed in approximately 1 in 5 individuals and impaired or delayed motor functioning were frequently reported.<\/span><\/p>\n\n\n\n\n\n\n\n\n\n\n\n
STXBP1-Associated Diagnoses Seen in 147 Individuals<\/strong><\/td>\n<\/tr>\n
Diagnosis<\/strong><\/td>\nPercentage of Individuals with Diagnosis (%)<\/strong><\/td>\n<\/tr>\n
Early-onset epileptic encephalopathy (EOEE)<\/strong><\/td>\n53<\/td>\n<\/tr>\n
Ohtahara Syndrome<\/strong><\/td>\n21<\/td>\n<\/tr>\n
West Syndrome<\/strong><\/td>\n10<\/td>\n<\/tr>\n
Intellectual Disability (ID) without epilepsy<\/strong><\/td>\n7<\/td>\n<\/tr>\n
Intellectual Disability (ID) with epilepsy<\/strong><\/td>\n6<\/td>\n<\/tr>\n
Dravet Syndrome<\/strong><\/td>\n2<\/td>\n<\/tr>\n
Early myoclonic encephalopathy (EME)<\/strong><\/td>\n1<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

 <\/p>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

STXBP1 Encephalopathy Original research article by Stamberger et al. (2016). Read the abstract here. The\u00a0STXBP1\u00a0gene has a role in brain signaling and is most commonly linked with Ohtahara syndrome, a syndrome characterized by seizures and EEG (electroencephalograms) abnormalities presenting in infancy. As access to and uptake of genetic testing has increased, researchers have identified new […]<\/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\/7805"}],"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=7805"}],"version-history":[{"count":4,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/7805\/revisions"}],"predecessor-version":[{"id":7983,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/7805\/revisions\/7983"}],"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=7805"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}