{"id":892,"date":"2016-05-19T18:22:29","date_gmt":"2016-05-19T18:22:29","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=892"},"modified":"2026-02-25T00:07:02","modified_gmt":"2026-02-25T00:07:02","slug":"gator1-complex-the-common-genetic-actor-in-focal-epilepsies","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/05\/19\/gator1-complex-the-common-genetic-actor-in-focal-epilepsies\/","title":{"rendered":"GATOR1 complex: the common genetic actor in focal epilepsies (Contributed by Sara Baldassari)"},"content":{"rendered":"<p>mTOR is a critical effector of cell signaling, playing a pivotal role in regulating physiology of the whole body, including the brain. Mutations in genes encoding GATOR1 complex, an inhibitor of mTOR activity, have been recently implicated in the pathogenesis of a wide spectrum of focal epilepsies (FEs), occasionally associated with malformations of cortical development. Loss of mTOR inhibitor activity is the hypothesized mechanism underlying epilepsy. In this review, the authors summarize the current knowledge about GATOR1 mutations in FEs, and discuss the future therapeutic opportunities for patients. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/05\/19\/jmedgenet-2016-103883\">http:\/\/jmg.bmj.com\/content\/early\/2016\/05\/19\/jmedgenet-2016-103883<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>mTOR is a critical effector of cell signaling, playing a pivotal role in regulating physiology of the whole body, including the brain. Mutations in genes encoding GATOR1 complex, an inhibitor of mTOR activity, have been recently implicated in the pathogenesis of a wide spectrum of focal epilepsies (FEs), occasionally associated with malformations of cortical development. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/05\/19\/gator1-complex-the-common-genetic-actor-in-focal-epilepsies\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-892","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>GATOR1 complex: the common genetic actor in focal epilepsies (Contributed by Sara Baldassari) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/05\/19\/gator1-complex-the-common-genetic-actor-in-focal-epilepsies\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"GATOR1 complex: the common genetic actor in focal epilepsies (Contributed by Sara Baldassari) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"mTOR is a critical effector of cell signaling, playing a pivotal role in regulating physiology of the whole body, including the brain. Mutations in genes encoding GATOR1 complex, an inhibitor of mTOR activity, have been recently implicated in the pathogenesis of a wide spectrum of focal epilepsies (FEs), occasionally associated with malformations of cortical development. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/05\/19\/gator1-complex-the-common-genetic-actor-in-focal-epilepsies\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-05-19T18:22:29+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:07:02+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/05\\\/19\\\/gator1-complex-the-common-genetic-actor-in-focal-epilepsies\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/05\\\/19\\\/gator1-complex-the-common-genetic-actor-in-focal-epilepsies\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"GATOR1 complex: the common genetic actor in focal epilepsies (Contributed by Sara Baldassari)\",\"datePublished\":\"2016-05-19T18:22:29+00:00\",\"dateModified\":\"2026-02-25T00:07:02+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/05\\\/19\\\/gator1-complex-the-common-genetic-actor-in-focal-epilepsies\\\/\"},\"wordCount\":109,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/05\\\/19\\\/gator1-complex-the-common-genetic-actor-in-focal-epilepsies\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/05\\\/19\\\/gator1-complex-the-common-genetic-actor-in-focal-epilepsies\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/05\\\/19\\\/gator1-complex-the-common-genetic-actor-in-focal-epilepsies\\\/\",\"name\":\"GATOR1 complex: the common genetic actor in focal epilepsies (Contributed by Sara Baldassari) - 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