{"id":2216,"date":"2026-08-07T15:22:45","date_gmt":"2026-08-07T15:22:45","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2216"},"modified":"2026-08-07T15:22:45","modified_gmt":"2026-08-07T15:22:45","slug":"cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\/","title":{"rendered":"CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders (Contributed by Dr Chuan-Fang Cheng)"},"content":{"rendered":"<p>CACNA1C is known to be associated with arrhythmias and developmental disorders, while its role in epilepsy has remained unclear. In this study, we focused on CACNA1C mutations in focal epilepsy, one of the most common seizure types. Using trio-based whole-exome sequencing, we identified three de novo CACNA1C mutations in patients with focal epilepsy. Notably, we found that molecular sub-regional effects may help explain the phenotypic heterogeneity. These findings suggest that CACNA1C is potentially a candidate causative gene of focal epilepsy, warranting special attention due to its association with arrhythmias and the risk of sudden unexpected death in epilepsy (SUDEP). (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2026\/08\/06\/jmg-2025-110918\">https:\/\/jmg.bmj.com\/content\/early\/2026\/08\/06\/jmg-2025-110918<\/a>)<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\/photo-3\/\" rel=\"attachment wp-att-2217\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-2217\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/photo-300x225.jpg\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/photo-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/photo-1024x768.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/photo-768x576.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/photo-1536x1152.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/photo-2048x1536.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/photo-640x480.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>CACNA1C is known to be associated with arrhythmias and developmental disorders, while its role in epilepsy has remained unclear. In this study, we focused on CACNA1C mutations in focal epilepsy, one of the most common seizure types. Using trio-based whole-exome sequencing, we identified three de novo CACNA1C mutations in patients with focal epilepsy. Notably, we [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\/\">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-2216","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders (Contributed by Dr Chuan-Fang Cheng) - 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\/2026\/08\/07\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders (Contributed by Dr Chuan-Fang Cheng) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"CACNA1C is known to be associated with arrhythmias and developmental disorders, while its role in epilepsy has remained unclear. In this study, we focused on CACNA1C mutations in focal epilepsy, one of the most common seizure types. Using trio-based whole-exome sequencing, we identified three de novo CACNA1C mutations in patients with focal epilepsy. Notably, we [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2026-08-07T15:22:45+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/photo-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1920\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2026\\\/08\\\/07\\\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders (Contributed by Dr Chuan-Fang Cheng)\",\"datePublished\":\"2026-08-07T15:22:45+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\\\/\"},\"wordCount\":131,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2026\\\/08\\\/photo-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/cacna1c-variants-associated-with-focal-epilepsy-and-their-correlations-with-arrhythmias-and-developmental-disorders-contributed-by-dr-chuan-fang-cheng\\\/\",\"name\":\"CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders (Contributed by Dr Chuan-Fang Cheng) - 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