{"id":450,"date":"2013-01-23T19:34:09","date_gmt":"2013-01-23T19:34:09","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=450"},"modified":"2026-02-25T20:20:04","modified_gmt":"2026-02-25T20:20:04","slug":"role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/","title":{"rendered":"Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron)"},"content":{"rendered":"<p>Benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are two distinct neurological disorders that have been thought to have the same genetic basis, since the two disorders are sometimes seen together as Infantile Convulsions and Choreoathetosis (ICCA) syndrome and have each been mapped to the same region of the genome. The gene for these disorders, <i>PRRT2<\/i>, was identified in 2011. Despite the relatively recent association of <i>PRRT2<\/i> with BFIE, ICCA and PKD, more than 300 families and patients with mutations have already been described. In this review, we discuss the spectrum of mutations reported in this gene, the associated disorders and the current data regarding the biological role of the PRRT2 protein. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/22\/jmedgenet-2012-101406\">http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/22\/jmedgenet-2012-101406<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are two distinct neurological disorders that have been thought to have the same genetic basis, since the two disorders are sometimes seen together as Infantile Convulsions and Choreoathetosis (ICCA) syndrome and have each been mapped to the same region of the genome. The gene for [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/\">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-450","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron) - 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\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are two distinct neurological disorders that have been thought to have the same genetic basis, since the two disorders are sometimes seen together as Infantile Convulsions and Choreoathetosis (ICCA) syndrome and have each been mapped to the same region of the genome. The gene for [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-01-23T19:34:09+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:20:04+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\\\/2013\\\/01\\\/23\\\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/23\\\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron)\",\"datePublished\":\"2013-01-23T19:34:09+00:00\",\"dateModified\":\"2026-02-25T20:20:04+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/23\\\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\\\/\"},\"wordCount\":138,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/23\\\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/23\\\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/23\\\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\\\/\",\"name\":\"Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/","og_locale":"en_US","og_type":"article","og_title":"Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron) - JMG Contact blog","og_description":"Benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are two distinct neurological disorders that have been thought to have the same genetic basis, since the two disorders are sometimes seen together as Infantile Convulsions and Choreoathetosis (ICCA) syndrome and have each been mapped to the same region of the genome. The gene for [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/","og_site_name":"JMG Contact blog","article_published_time":"2013-01-23T19:34:09+00:00","article_modified_time":"2026-02-25T20:20:04+00:00","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\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron)","datePublished":"2013-01-23T19:34:09+00:00","dateModified":"2026-02-25T20:20:04+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/"},"wordCount":138,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/","url":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/","name":"Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2013-01-23T19:34:09+00:00","dateModified":"2026-02-25T20:20:04+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/23\/role-of-prrt2-in-common-paroxysmal-neurological-disorders-a-gene-with-remarkable-pleiotropy\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy (Contributed by Dr. Sarah Heron)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). 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