{"id":822,"date":"2015-11-07T01:53:03","date_gmt":"2015-11-07T01:53:03","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=822"},"modified":"2026-02-25T00:35:11","modified_gmt":"2026-02-25T00:35:11","slug":"unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/11\/07\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\/","title":{"rendered":"UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN (Contributed by Yonatan Perez and Prof. Ohad Birk)"},"content":{"rendered":"<p>NALCN is a voltage-independent cation channel that controls neuronal excitability. NALCN is known to interact with two other proteins, UNC79 and UNC80, which together form an active channel complex in hippocampal neurons. Thus, regulation of the UNC79-UNC80-NALCN channel complex is extremely important for controlling neuronal excitability. Our study presents a novel syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, caused by a nonsense UNC80 mutation. This mutation likely generates a dramatically truncated non-functional UNC80 protein leading to malfunction of the UNC79-UNC80-NALCN active complex, in line with the UNC80 mutation phenotype being similar to that stemming from NALCN null-function mutations. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/11\/05\/jmedgenet-2015-103352\">http:\/\/jmg.bmj.com\/content\/early\/2015\/11\/05\/jmedgenet-2015-103352<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/11\/Picture1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-823\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/11\/Picture1-300x237.jpg\" alt=\"Picture1\" width=\"300\" height=\"237\" \/><\/a><\/p>\n<p>From left to right: Yonatan Perez and Prof. Ohad Birk<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>NALCN is a voltage-independent cation channel that controls neuronal excitability. NALCN is known to interact with two other proteins, UNC79 and UNC80, which together form an active channel complex in hippocampal neurons. Thus, regulation of the UNC79-UNC80-NALCN channel complex is extremely important for controlling neuronal excitability. Our study presents a novel syndrome of hypotonia, severe [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/11\/07\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\/\">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-822","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>UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN (Contributed by Yonatan Perez and Prof. Ohad Birk) - 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\/2015\/11\/07\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN (Contributed by Yonatan Perez and Prof. Ohad Birk) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"NALCN is a voltage-independent cation channel that controls neuronal excitability. NALCN is known to interact with two other proteins, UNC79 and UNC80, which together form an active channel complex in hippocampal neurons. Thus, regulation of the UNC79-UNC80-NALCN channel complex is extremely important for controlling neuronal excitability. Our study presents a novel syndrome of hypotonia, severe [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/11\/07\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-11-07T01:53:03+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:35:11+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\\\/2015\\\/11\\\/07\\\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/11\\\/07\\\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN (Contributed by Yonatan Perez and Prof. Ohad Birk)\",\"datePublished\":\"2015-11-07T01:53:03+00:00\",\"dateModified\":\"2026-02-25T00:35:11+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/11\\\/07\\\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\\\/\"},\"wordCount\":155,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/11\\\/07\\\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2015\\\/11\\\/Picture1-300x237.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/11\\\/07\\\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/11\\\/07\\\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/11\\\/07\\\/unc80-mutation-causes-a-syndrome-of-hypotonia-severe-intellectual-disability-dyskinesia-and-dysmorphism-similar-to-that-caused-by-mutations-in-its-interacting-cation-channel-nalcn\\\/\",\"name\":\"UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN (Contributed by Yonatan Perez and Prof. Ohad Birk) - 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