Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
A. Jones, Matilde Aquilino, Rory J. Tinker, Laura Duncan, Zandra A. Jenkins, Gemma L. Carvill, Stephanie J. DeWard, Dorothy K. Grange, M.J. Hajianpour, Benjamin J. Halliday, Muriel Holder‐Espinasse, Judit Horváth, Silvia Maitz, Vincenzo Nigro, Manuela Morleo, Victoria Paul, Careni Spencer, Alina Esterhuizen, Tilman Polster, Alice Spano, Inés Gómez‐Lozano, Abhishek Kumar, Gemma Poke, John A. Phillips, Hunter R. Underhill, Grégory Gimenez, Takashi Namba, Stephen P. Robertson
Topics & Concepts
GlutamineEncephalopathyEpilepsyBiologyGlutamine synthetaseGeneticsMedicineAmino acidInternal medicineNeuroscienceMetabolism and Genetic DisordersGenetics and Neurodevelopmental DisordersAmino Acid Enzymes and Metabolism