ESHG 2024 Poster: Novel variants in FZR1 consolidate its role in developmental and epileptic encephalopathies type 109


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.

Share this page: