{"id":988,"date":"2017-04-08T18:27:18","date_gmt":"2017-04-08T18:27:18","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=988"},"modified":"2026-02-24T21:07:51","modified_gmt":"2026-02-24T21:07:51","slug":"confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/04\/08\/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy\/","title":{"rendered":"Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy (Contributed by Prof. Dr. Barbara Plecko)"},"content":{"rendered":"<p>Early onset epilepsy with resistance to common anticonvulsants can be due to genetic defects that respond to high doses of vitamin B6. We describe four patients with neonatal, pyridoxine (vitamin B6) responsive seizures and disease causing variants in the <em>PROSC<\/em> gene, which regulates vitamin B6 metabolism in body cells. Three patients had favorable outcome with normal intellectual properties at age 12.5, 15.5 and 30 years respectively, while one child had marked developmental delay at age 27 months. Prognosis of patients depends on early treatment with vitamin B6, an essential cofactor for normal brain function, and the underlying <em>PROSC<\/em> variants. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/04\/07\/jmedgenet-2017-104521\">http:\/\/jmg.bmj.com\/content\/early\/2017\/04\/07\/jmedgenet-2017-104521<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Early onset epilepsy with resistance to common anticonvulsants can be due to genetic defects that respond to high doses of vitamin B6. We describe four patients with neonatal, pyridoxine (vitamin B6) responsive seizures and disease causing variants in the PROSC gene, which regulates vitamin B6 metabolism in body cells. Three patients had favorable outcome with [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/04\/08\/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy\/\">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-988","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy (Contributed by Prof. Dr. Barbara Plecko) - 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\/2017\/04\/08\/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy (Contributed by Prof. Dr. Barbara Plecko) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Early onset epilepsy with resistance to common anticonvulsants can be due to genetic defects that respond to high doses of vitamin B6. We describe four patients with neonatal, pyridoxine (vitamin B6) responsive seizures and disease causing variants in the PROSC gene, which regulates vitamin B6 metabolism in body cells. Three patients had favorable outcome with [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/04\/08\/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-04-08T18:27:18+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:07:51+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\\\/2017\\\/04\\\/08\\\/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/04\\\/08\\\/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy (Contributed by Prof. Dr. Barbara Plecko)\",\"datePublished\":\"2017-04-08T18:27:18+00:00\",\"dateModified\":\"2026-02-24T21:07:51+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/04\\\/08\\\/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy\\\/\"},\"wordCount\":123,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/04\\\/08\\\/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/04\\\/08\\\/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/04\\\/08\\\/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy\\\/\",\"name\":\"Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy (Contributed by Prof. Dr. Barbara Plecko) - 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