{"id":244,"date":"2011-12-30T19:48:15","date_gmt":"2011-12-30T19:48:15","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=244"},"modified":"2026-02-25T20:46:47","modified_gmt":"2026-02-25T20:46:47","slug":"mutations-in-prrt2-result-in-paroxysmal-dyskinesias-with-marked-variability-in-clinical-expression","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/30\/mutations-in-prrt2-result-in-paroxysmal-dyskinesias-with-marked-variability-in-clinical-expression\/","title":{"rendered":"Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression (Contributed by Dr. Qing Liu)"},"content":{"rendered":"<p>Paroxysmal dyskinesias (PD) are a group of neurological disorders with episodes of involuntary movements that can be classified into three main categories: paroxysmal kinesigenic dyskinesia (PKD) , paroxysmal exercise induced dyskinesia (PED) and paroxysmal nonkinesigenic dyskinesia(PNKD). Interestingly, PDs may be variably associated with epilepsy. Description of familial infantile convulsions with paroxysmal choreoathetosis (ICCA) and its linkage to the same region with PKD gave the first genetic evidence for common mechanisms shared by PD and certain forms of epilepsy. Our findings show that PKD, ICCA and other PD-related phenotypes could be caused by mutation in the same <em>PRRT2 <\/em>gene, suggesting that these phenotypes are part of the same phenotypic spectrum. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/12\/29\/jmedgenet-2011-100653.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/12\/29\/jmedgenet-2011-100653.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Paroxysmal dyskinesias (PD) are a group of neurological disorders with episodes of involuntary movements that can be classified into three main categories: paroxysmal kinesigenic dyskinesia (PKD) , paroxysmal exercise induced dyskinesia (PED) and paroxysmal nonkinesigenic dyskinesia(PNKD). Interestingly, PDs may be variably associated with epilepsy. Description of familial infantile convulsions with paroxysmal choreoathetosis (ICCA) and its [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/30\/mutations-in-prrt2-result-in-paroxysmal-dyskinesias-with-marked-variability-in-clinical-expression\/\">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-244","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>Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression (Contributed by Dr. Qing 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\/12\/30\/mutations-in-prrt2-result-in-paroxysmal-dyskinesias-with-marked-variability-in-clinical-expression\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression (Contributed by Dr. Qing Liu) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Paroxysmal dyskinesias (PD) are a group of neurological disorders with episodes of involuntary movements that can be classified into three main categories: paroxysmal kinesigenic dyskinesia (PKD) , paroxysmal exercise induced dyskinesia (PED) and paroxysmal nonkinesigenic dyskinesia(PNKD). Interestingly, PDs may be variably associated with epilepsy. 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