{"id":2108,"date":"2025-09-10T18:53:49","date_gmt":"2025-09-10T18:53:49","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2108"},"modified":"2026-02-22T00:51:10","modified_gmt":"2026-02-22T00:51:10","slug":"mixed-functional-consequences-of-the-n651d-gria3-variant-a-case-of-early-onset-developmental-and-epileptic-encephalopathy-with-parkinsonism","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/09\/10\/mixed-functional-consequences-of-the-n651d-gria3-variant-a-case-of-early-onset-developmental-and-epileptic-encephalopathy-with-parkinsonism\/","title":{"rendered":"Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with Parkinsonism (Contributed by Dr. Carme Fons)"},"content":{"rendered":"

Our study focuses on a rare genetic change in the GRIA3 gene, which plays a key role in excitatory brain pathways. This gene encodes a protein that is part of the AMPA receptor. We discovered a new variant in a child with severe developmental problems, epilepsy, and movement disorders. Interestingly, this mutation does not fit neatly into the usual \u201closs\u201d or \u201cgain\u201d of function categories\u2014it shows features of both. This mixed effect may explain why the child\u2019s symptoms are especially severe. Our findings highlight the complexity of brain disorders and may guide future diagnosis and treatment strategies. (https:\/\/jmg.bmj.com\/content\/early\/2025\/09\/10\/jmg-2025-110855<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Our study focuses on a rare genetic change in the GRIA3 gene, which plays a key role in excitatory brain pathways. This gene encodes a protein that is part of the AMPA receptor. We discovered a new variant in a child with severe developmental problems, epilepsy, and movement disorders. Interestingly, this mutation does not fit […]<\/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-2108","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nMixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with Parkinsonism (Contributed by Dr. Carme Fons) - 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\/2025\/09\/10\/mixed-functional-consequences-of-the-n651d-gria3-variant-a-case-of-early-onset-developmental-and-epileptic-encephalopathy-with-parkinsonism\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with Parkinsonism (Contributed by Dr. Carme Fons) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Our study focuses on a rare genetic change in the GRIA3 gene, which plays a key role in excitatory brain pathways. This gene encodes a protein that is part of the AMPA receptor. We discovered a new variant in a child with severe developmental problems, epilepsy, and movement disorders. 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