{"id":9132,"date":"2022-01-25T07:51:14","date_gmt":"2022-01-25T07:51:14","guid":{"rendered":"https:\/\/ring20researchsupport.co.uk\/?p=9132"},"modified":"2023-02-10T08:54:22","modified_gmt":"2023-02-10T08:54:22","slug":"unravel_phasei_video_6","status":"publish","type":"post","link":"https:\/\/ring20researchsupport.co.uk\/nb\/2022\/01\/unravel_phasei_video_6\/","title":{"rendered":"Diagnostisering av genetiske epilepsier"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"9132\" class=\"elementor elementor-9132\" data-elementor-post-type=\"post\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-3c6acad elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"3c6acad\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-1bfcff26\" data-id=\"1bfcff26\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-2d84d94c elementor-widget elementor-widget-text-editor\" data-id=\"2d84d94c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>There are many different causes of seizures, one of which is a change in your genes. There are many different genes that have been found to cause epilepsy &#8211; also known as the genetic epilepsies.<\/p><p>Ring Chromosome 20 Syndrome [r(20)] is classed as a genetic epilepsy, but we don&#8217;t yet which gene or gene(s) are causing the seizures and other problems.\u00a0<em>If we did, we might be closer to finding effective treatments.<\/em><\/p><p>This video explains some of the ways in which epilepsy is diagnosed today and why this could be contributing to\u00a0 a decline in diagnoses of people with r(20).<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-52a6a21 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"52a6a21\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-89d22bf\" data-id=\"89d22bf\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-a07e654 elementor-widget elementor-widget-video\" data-id=\"a07e654\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;youtube_url&quot;:&quot;https:\\\/\\\/youtu.be\\\/-MmlIUxm-LA&quot;,&quot;video_type&quot;:&quot;youtube&quot;,&quot;controls&quot;:&quot;yes&quot;}\" data-widget_type=\"video.default\">\n\t\t\t\t\t\t\t<div class=\"elementor-wrapper elementor-open-inline\">\n\t\t\t<div class=\"elementor-video\"><\/div>\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-0d41bcd\" data-id=\"0d41bcd\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-458e194 elementor-widget elementor-widget-heading\" data-id=\"458e194\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">More in this series:<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-8cf3898 elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"8cf3898\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-list.default\">\n\t\t\t\t\t\t\t<ul class=\"elementor-icon-list-items\">\n\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ring20researchsupport.co.uk\/2022\/01\/unravel_phasei_infographic1\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-info-circle\" viewBox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M256 8C119.043 8 8 119.083 8 256c0 136.997 111.043 248 248 248s248-111.003 248-248C504 119.083 392.957 8 256 8zm0 110c23.196 0 42 18.804 42 42s-18.804 42-42 42-42-18.804-42-42 18.804-42 42-42zm56 254c0 6.627-5.373 12-12 12h-88c-6.627 0-12-5.373-12-12v-24c0-6.627 5.373-12 12-12h12v-64h-12c-6.627 0-12-5.373-12-12v-24c0-6.627 5.373-12 12-12h64c6.627 0 12 5.373 12 12v100h12c6.627 0 12 5.373 12 12v24z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">8 Evolution of r(20) diagnosis<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ring20researchsupport.co.uk\/2021\/12\/unravel_phasei_video_5\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewBox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">7 First case of r(20) diagnosed<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ring20researchsupport.co.uk\/2021\/12\/unravel_phasei_video_4\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewBox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">6 FISH<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ring20researchsupport.co.uk\/2022\/01\/unravel_phasei_slides2\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fab-slideshare\" viewBox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M187.7 153.7c-34 0-61.7 25.7-61.7 57.7 0 31.7 27.7 57.7 61.7 57.7s61.7-26 61.7-57.7c0-32-27.7-57.7-61.7-57.7zm143.4 0c-34 0-61.7 25.7-61.7 57.7 0 31.7 27.7 57.7 61.7 57.7 34.3 0 61.7-26 61.7-57.7.1-32-27.4-57.7-61.7-57.7zm156.6 90l-6 4.3V49.7c0-27.4-20.6-49.7-46-49.7H76.6c-25.4 0-46 22.3-46 49.7V248c-2-1.4-4.3-2.9-6.3-4.3-15.1-10.6-25.1 4-16 17.7 18.3 22.6 53.1 50.3 106.3 72C58.3 525.1 252 555.7 248.9 457.5c0-.7.3-56.6.3-96.6 5.1 1.1 9.4 2.3 13.7 3.1 0 39.7.3 92.8.3 93.5-3.1 98.3 190.6 67.7 134.3-124 53.1-21.7 88-49.4 106.3-72 9.1-13.8-.9-28.3-16.1-17.8zm-30.5 19.2c-68.9 37.4-128.3 31.1-160.6 29.7-23.7-.9-32.6 9.1-33.7 24.9-10.3-7.7-18.6-15.5-20.3-17.1-5.1-5.4-13.7-8-27.1-7.7-31.7 1.1-89.7 7.4-157.4-28V72.3c0-34.9 8.9-45.7 40.6-45.7h317.7c30.3 0 40.9 12.9 40.9 45.7v190.6z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">5 Ring <span class='tooltipsall tooltipsincontent classtoolTips0'>Chromosomes<\/span>: Diagnostic testing<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ring20researchsupport.co.uk\/2021\/12\/unravel_phasei_video_3\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewBox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">4 What is a ring chromosome<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ring20researchsupport.co.uk\/2021\/12\/unravel_phasei_video_2\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewBox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">3 Different ways to diagnose genetic disorders<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ring20researchsupport.co.uk\/2021\/12\/unravel_phasei_video_1\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewBox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">2 Different types of genetic disorders<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ring20researchsupport.co.uk\/2021\/12\/unravel_phasei_slides1\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fab-slideshare\" viewBox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M187.7 153.7c-34 0-61.7 25.7-61.7 57.7 0 31.7 27.7 57.7 61.7 57.7s61.7-26 61.7-57.7c0-32-27.7-57.7-61.7-57.7zm143.4 0c-34 0-61.7 25.7-61.7 57.7 0 31.7 27.7 57.7 61.7 57.7 34.3 0 61.7-26 61.7-57.7.1-32-27.4-57.7-61.7-57.7zm156.6 90l-6 4.3V49.7c0-27.4-20.6-49.7-46-49.7H76.6c-25.4 0-46 22.3-46 49.7V248c-2-1.4-4.3-2.9-6.3-4.3-15.1-10.6-25.1 4-16 17.7 18.3 22.6 53.1 50.3 106.3 72C58.3 525.1 252 555.7 248.9 457.5c0-.7.3-56.6.3-96.6 5.1 1.1 9.4 2.3 13.7 3.1 0 39.7.3 92.8.3 93.5-3.1 98.3 190.6 67.7 134.3-124 53.1-21.7 88-49.4 106.3-72 9.1-13.8-.9-28.3-16.1-17.8zm-30.5 19.2c-68.9 37.4-128.3 31.1-160.6 29.7-23.7-.9-32.6 9.1-33.7 24.9-10.3-7.7-18.6-15.5-20.3-17.1-5.1-5.4-13.7-8-27.1-7.7-31.7 1.1-89.7 7.4-157.4-28V72.3c0-34.9 8.9-45.7 40.6-45.7h317.7c30.3 0 40.9 12.9 40.9 45.7v190.6z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">1 <span class='tooltipsall tooltipsincontent classtoolTips0'>Chromosomes<\/span>, Genes and DNA<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-6206395 elementor-widget elementor-widget-heading\" data-id=\"6206395\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">UP NEXT:<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-8c9f2ac elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"8c9f2ac\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-list.default\">\n\t\t\t\t\t\t\t<ul class=\"elementor-icon-list-items\">\n\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewBox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">10 How to diagnose r(20) syndrome<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-blog\" viewBox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M172.2 226.8c-14.6-2.9-28.2 8.9-28.2 23.8V301c0 10.2 7.1 18.4 16.7 22 18.2 6.8 31.3 24.4 31.3 45 0 26.5-21.5 48-48 48s-48-21.5-48-48V120c0-13.3-10.7-24-24-24H24c-13.3 0-24 10.7-24 24v248c0 89.5 82.1 160.2 175 140.7 54.4-11.4 98.3-55.4 109.7-109.7 17.4-82.9-37-157.2-112.5-172.2zM209 0c-9.2-.5-17 6.8-17 16v31.6c0 8.5 6.6 15.5 15 15.9 129.4 7 233.4 112 240.9 241.5.5 8.4 7.5 15 15.9 15h32.1c9.2 0 16.5-7.8 16-17C503.4 139.8 372.2 8.6 209 0zm.3 96c-9.3-.7-17.3 6.7-17.3 16.1v32.1c0 8.4 6.5 15.3 14.8 15.9 76.8 6.3 138 68.2 144.9 145.2.8 8.3 7.6 14.7 15.9 14.7h32.2c9.3 0 16.8-8 16.1-17.3-8.4-110.1-96.5-198.2-206.6-206.7z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">11 Why diagnosis matters, and a matter of diagnosis<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t<script type=\"text\/javascript\"> toolTips('.classtoolTips0','Chromosomes are long string-like structures that store all of our DNA. Each cell in the human body usually has 23 pairs of chromosomes (or 46 chromosomes in total).'); <\/script>","protected":false},"excerpt":{"rendered":"<p>Det er hundrevis av gener som er kjent for \u00e5 for\u00e5rsake epilepsi, hvorav ingen er relatert til r(20)-syndrom. 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