Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

Start-loss variants in GLUL result in a severe developmental and epileptic phenotype through the stabilization of glutamine synthetase, an enzyme crucial for brain function. This disorder is unusual in its gain-of-stabilization mechanism contrasting with the allelic deficiency disorder.

Source: The American Journal of Human Genetics - April 4, 2024 Category: Genetics & Stem Cells Authors: Amy G. Jones, Matilde Aquilino, Rory J. Tinker, Laura Duncan, Zandra Jenkins, Gemma L. Carvill, Stephanie J. DeWard, Dorothy K. Grange, MJ Hajianpour, Benjamin J. Halliday, Muriel Holder-Espinasse, Judit Horvath, Silvia Maitz, Vincenzo Nigro, Manuela Morl Tags: Article Source Type: research