{"id":557,"date":"2013-06-29T02:58:40","date_gmt":"2013-06-29T02:58:40","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=557"},"modified":"2013-06-29T02:58:40","modified_gmt":"2013-06-29T02:58:40","slug":"west-syndrome-microcephaly-grey-matter-heterotopia-and-hypoplasia-of-corpus-callosum-due-to-a-novel-arfgef2-mutation","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/06\/29\/west-syndrome-microcephaly-grey-matter-heterotopia-and-hypoplasia-of-corpus-callosum-due-to-a-novel-arfgef2-mutation\/","title":{"rendered":"West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation"},"content":{"rendered":"<p>West syndrome, a severe form of epileptic encephalopathy, has been linked to mutations in several genes. Banne and collaborators present a severely affected family, with West syndrome, accompanied by severe microcephaly and gray matter heterotopia. By using whole Exome sequencing, a mutation in <i>ARFGEF2<\/i>, a gene coding a protein involved in the activation of ADP \u2013 ribosylation factor and also important for golgi transport. <i>ARFGEF2<\/i> was previously described as a cause of microcephaly and heterotopia, but this novel mutation in <i>ARFGEF2<\/i> emphasizes it&#8217;s importance in West syndrome and shows an extremely severe disease, which includes also a small corpus callosum and severe psychomotor retardation. (By Simon Edvardson MD, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/06\/27\/jmedgenet-2013-101752\">http:\/\/jmg.bmj.com\/content\/early\/2013\/06\/27\/jmedgenet-2013-101752<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>West syndrome, a severe form of epileptic encephalopathy, has been linked to mutations in several genes. Banne and collaborators present a severely affected family, with West syndrome, accompanied by severe microcephaly and gray matter heterotopia. By using whole Exome sequencing, a mutation in ARFGEF2, a gene coding a protein involved in the activation of ADP [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/06\/29\/west-syndrome-microcephaly-grey-matter-heterotopia-and-hypoplasia-of-corpus-callosum-due-to-a-novel-arfgef2-mutation\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-557","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/557","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=557"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/557\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=557"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=557"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=557"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}