Litcius/Paper detail

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

2024The American Journal of Human Genetics18 citationsDOIOpen Access PDF

Topics & Concepts

GlutamineEncephalopathyEpilepsyBiologyGlutamine synthetaseGeneticsMedicineAmino acidInternal medicineNeuroscienceMetabolism and Genetic DisordersGenetics and Neurodevelopmental DisordersAmino Acid Enzymes and Metabolism