{"id":233,"date":"2011-11-30T21:03:30","date_gmt":"2011-11-30T21:03:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=233"},"modified":"2026-02-25T20:48:43","modified_gmt":"2026-02-25T20:48:43","slug":"targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/11\/30\/targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis\/","title":{"rendered":"Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis (Contributed by Professor Ying Liu)"},"content":{"rendered":"<p>Paroxysmal kinesigenic choreoathetosis (PKC), firstly reported in 1967, is characterized by recurrent and brief attacks of involuntary movement and causative gene remains unidentified. Using targeted genomic sequencing and conventional Sanger sequencing, the authors identified a spectrum of mutations in proline-rich transmembrane protein 2 (<em>PRRT2<\/em>). <em>PRRT2<\/em> mutations cause only a subset of PKC, which suggests that PKC is genetically heterogeneous. This finding has the potential to improve the understanding of molecular basis, clinical diagnosis and treatment for PKC. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/11\/30\/jmedgenet-2011-100635.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/11\/30\/jmedgenet-2011-100635.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Paroxysmal kinesigenic choreoathetosis (PKC), firstly reported in 1967, is characterized by recurrent and brief attacks of involuntary movement and causative gene remains unidentified. Using targeted genomic sequencing and conventional Sanger sequencing, the authors identified a spectrum of mutations in proline-rich transmembrane protein 2 (PRRT2). PRRT2 mutations cause only a subset of PKC, which suggests that [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/11\/30\/targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis\/\">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-233","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>Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis (Contributed by Professor Ying 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\/2011\/11\/30\/targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis (Contributed by Professor Ying Liu) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Paroxysmal kinesigenic choreoathetosis (PKC), firstly reported in 1967, is characterized by recurrent and brief attacks of involuntary movement and causative gene remains unidentified. Using targeted genomic sequencing and conventional Sanger sequencing, the authors identified a spectrum of mutations in proline-rich transmembrane protein 2 (PRRT2). PRRT2 mutations cause only a subset of PKC, which suggests that [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/11\/30\/targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-11-30T21:03:30+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:48:43+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\\\/2011\\\/11\\\/30\\\/targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/30\\\/targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis (Contributed by Professor Ying Liu)\",\"datePublished\":\"2011-11-30T21:03:30+00:00\",\"dateModified\":\"2026-02-25T20:48:43+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/30\\\/targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis\\\/\"},\"wordCount\":103,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/30\\\/targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/30\\\/targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/30\\\/targeted-genomic-sequencing-identifies-prrt2-mutations-as-a-cause-of-paroxysmal-kinesigenic-choreoathetosis\\\/\",\"name\":\"Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis (Contributed by Professor Ying Liu) - 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