{"id":1635,"date":"2021-05-19T14:22:00","date_gmt":"2021-05-19T14:22:00","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1635"},"modified":"2026-02-23T21:19:17","modified_gmt":"2026-02-23T21:19:17","slug":"neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/05\/19\/neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1\/","title":{"rendered":"Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1 (Contributed by Dr. Ashley Kahen)"},"content":{"rendered":"

SLC6A1 encodes GAT-1, a gamma-aminobutyric acid (GABA) transporter in the brain. We describe 28 individuals recruited through Simons Searchlight with heterozygous pathogenic or likely pathogenic SLC6A1 variants to better understand the associated neurobehavioral phenotype. Individuals all have some combination of developmental delay, intellectual disability, speech delay, language disorder, seizures, autism, hypotonia, and\/or movement\/coordination disorders. We provide detailed behavioral profiles and seizure data and expand the number of reported SLC6A1 variants. (https:\/\/jmg.bmj.com\/content\/early\/2021\/05\/18\/jmedgenet-2021-107694 )<\/p>\n

\"\"<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

SLC6A1 encodes GAT-1, a gamma-aminobutyric acid (GABA) transporter in the brain. We describe 28 individuals recruited through Simons Searchlight with heterozygous pathogenic or likely pathogenic SLC6A1 variants to better understand the associated neurobehavioral phenotype. Individuals all have some combination of developmental delay, intellectual disability, speech delay, language disorder, seizures, autism, hypotonia, and\/or movement\/coordination disorders. We […]<\/p>\n

Read More…<\/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-1635","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nNeurodevelopmental phenotypes associated with pathogenic variants in SLC6A1 (Contributed by Dr. Ashley Kahen) - 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\/2021\/05\/19\/neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1 (Contributed by Dr. Ashley Kahen) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"SLC6A1 encodes GAT-1, a gamma-aminobutyric acid (GABA) transporter in the brain. We describe 28 individuals recruited through Simons Searchlight with heterozygous pathogenic or likely pathogenic SLC6A1 variants to better understand the associated neurobehavioral phenotype. Individuals all have some combination of developmental delay, intellectual disability, speech delay, language disorder, seizures, autism, hypotonia, and\/or movement\/coordination disorders. We [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/05\/19\/neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-05-19T14:22:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T21:19:17+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/05\/Untitled.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1546\" \/>\n\t<meta property=\"og:image:height\" content=\"868\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/2021\\\/05\\\/19\\\/neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/05\\\/19\\\/neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1 (Contributed by Dr. Ashley Kahen)\",\"datePublished\":\"2021-05-19T14:22:00+00:00\",\"dateModified\":\"2026-02-23T21:19:17+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/05\\\/19\\\/neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1\\\/\"},\"wordCount\":96,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/05\\\/19\\\/neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/05\\\/Untitled-300x168.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/05\\\/19\\\/neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/05\\\/19\\\/neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/05\\\/19\\\/neurodevelopmental-phenotypes-associated-with-pathogenic-variants-in-slc6a1\\\/\",\"name\":\"Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1 (Contributed by Dr. Ashley Kahen) - 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