{"id":14781,"date":"2024-06-01T16:15:29","date_gmt":"2024-06-01T14:15:29","guid":{"rendered":"https:\/\/www.arcensus-diagnostics.com\/?p=14781"},"modified":"2025-02-07T12:06:24","modified_gmt":"2025-02-07T11:06:24","slug":"eshg-2024-poster-fzr1-gene","status":"publish","type":"post","link":"https:\/\/www.arcensus-diagnostics.com\/en\/publications\/2024\/06\/eshg-2024-poster-fzr1-gene\/","title":{"rendered":"ESHG 2024 Poster: Novel variants in FZR1 consolidate its role in developmental and epileptic encephalopathies type 109"},"content":{"rendered":"\n

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of neurologic disorders characterized by onset of seizures in infancy or early childhood and neurodevelopmental impairments. To date, pathogenic variants in over 100 genes are reported in association with DEE. De novo loss-of-function FZR1 (fizzy and cell division cycle 20-related protein 1 gene) variants were recently associated with DEE type 109, with only four reported patients (1, 2). In this study, we report novel FZR1 variants in three unrelated patients with similar phenotypes.<\/p>\n","protected":false},"excerpt":{"rendered":"

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of neurologic disorders characterized by onset of seizures in infancy or early childhood and neurodevelopmental impairments. To date, pathogenic variants in over 100 genes are reported in association with DEE. De novo loss-of-function FZR1 (fizzy and cell division cycle 20-related protein 1 gene) variants were recently […]<\/p>\n","protected":false},"author":2,"featured_media":14796,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[82],"tags":[],"class_list":["post-14781","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications"],"acf":[],"yoast_head":"\nArcensus – ESHG 2024 Poster: Novel FZR1 Variants<\/title>\n<meta name=\"description\" content=\"The poster presentation with new findings on Developmental and Epileptic Encephalopathies (DEE). Three novel variants in the FZR1 gene shed light on the genetic basis and phenotype spectrum of this rare condition.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.arcensus-diagnostics.com\/en\/publications\/2024\/06\/eshg-2024-poster-fzr1-gene\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ESHG 2024 Poster: Novel variants in FZR1 consolidate its role in developmental and epileptic encephalopathies type 109\" \/>\n<meta property=\"og:description\" content=\"The poster presentation with new findings on Developmental and Epileptic Encephalopathies (DEE). 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