{"id":1804,"date":"2022-12-12T23:51:10","date_gmt":"2022-12-12T23:51:10","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1804"},"modified":"2026-02-23T00:25:01","modified_gmt":"2026-02-23T00:25:01","slug":"a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/","title":{"rendered":"A novel causative gene of epilepsy: Variants in BSN gene associated with epilepsy with favorable outcome (Contributed by Dr. Xiaorong Liu)"},"content":{"rendered":"<p>Epilepsy is a common neurological disorder featured by the recurrence of unprovoked seizures. The etiologies in the majority of patients with epilepsy still keep unknown. This study identified a novel causative gene of epilepsy\u2014<em>BSN<\/em> gene.<em> BSN <\/em>gene encodes Bassoon, an essential protein to assemble the cytomatrix at the active zone of neurotransmitter release. In this study, <em>BSN<\/em> variants were identified in eight unrelated cases with favorable outcome by using whole-exome sequencing. The pathogenic missense variants tended to gather at C-terminus of Bassoon. Clinically, the patients with monoallelic <em>BSN<\/em> missense variants were associated with benign epilepsy and achieved seizure free without treatment or under monotherapy, while the majority of patients with biallelic missense variants presented frequent seizures and required combined therapy, even had neurodevelopmental delay. These findings suggested the phenotypic severity of <em>BSN <\/em>variants was associated with the genotypes and the molecular sub-regional effects. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/12\/12\/jmg-2022-108865\">https:\/\/jmg.bmj.com\/content\/early\/2022\/12\/12\/jmg-2022-108865<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/powerpoint-%e6%bc%94%e7%a4%ba%e6%96%87%e7%a8%bf\/\" rel=\"attachment wp-att-1805\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1805\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-3-300x195.jpg\" alt=\"\" width=\"300\" height=\"195\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-3-300x195.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-3-1024x667.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-3-768x500.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-3-1536x1001.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-3-640x417.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-3.jpg 2008w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Epilepsy is a common neurological disorder featured by the recurrence of unprovoked seizures. The etiologies in the majority of patients with epilepsy still keep unknown. This study identified a novel causative gene of epilepsy\u2014BSN gene. BSN gene encodes Bassoon, an essential protein to assemble the cytomatrix at the active zone of neurotransmitter release. In this [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/\">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-1804","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>A novel causative gene of epilepsy: Variants in BSN gene associated with epilepsy with favorable outcome (Contributed by Dr. Xiaorong Liu) - 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\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A novel causative gene of epilepsy: Variants in BSN gene associated with epilepsy with favorable outcome (Contributed by Dr. Xiaorong Liu) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Epilepsy is a common neurological disorder featured by the recurrence of unprovoked seizures. The etiologies in the majority of patients with epilepsy still keep unknown. This study identified a novel causative gene of epilepsy\u2014BSN gene. BSN gene encodes Bassoon, an essential protein to assemble the cytomatrix at the active zone of neurotransmitter release. In this [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-12-12T23:51:10+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:25:01+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-3.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2008\" \/>\n\t<meta property=\"og:image:height\" content=\"1308\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2022\\\/12\\\/12\\\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/12\\\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A novel causative gene of epilepsy: Variants in BSN gene associated with epilepsy with favorable outcome (Contributed by Dr. Xiaorong Liu)\",\"datePublished\":\"2022-12-12T23:51:10+00:00\",\"dateModified\":\"2026-02-23T00:25:01+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/12\\\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\\\/\"},\"wordCount\":173,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/12\\\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/12\\\/Figure-3-300x195.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/12\\\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/12\\\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/12\\\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\\\/\",\"name\":\"A novel causative gene of epilepsy: Variants in BSN gene associated with epilepsy with favorable outcome (Contributed by Dr. Xiaorong Liu) - 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In this [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/","og_site_name":"JMG Contact blog","article_published_time":"2022-12-12T23:51:10+00:00","article_modified_time":"2026-02-23T00:25:01+00:00","og_image":[{"width":2008,"height":1308,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-3.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"A novel causative gene of epilepsy: Variants in BSN gene associated with epilepsy with favorable outcome (Contributed by Dr. Xiaorong Liu)","datePublished":"2022-12-12T23:51:10+00:00","dateModified":"2026-02-23T00:25:01+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/"},"wordCount":173,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-3-300x195.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/","url":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/12\/a-novel-causative-gene-of-epilepsy-variants-in-bsn-gene-associated-with-epilepsy-with-favorable-outcome\/","name":"A novel causative gene of epilepsy: Variants in BSN gene associated with epilepsy with favorable outcome (Contributed by Dr. Xiaorong Liu) - 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