@misc{indiciaed918412b5ad1, title = {Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.}, author = {Hannah M German and Maha S Zaki and Muhammad A Usmani and Irem Karagoz and Stephanie Efthymiou and Mohamed S Abdel-Hamid and Haya Abdelhafez Arabiyat and Amama Ghaffar and Mohsin Shahzad and Hans van Bokhoven and Zubair M Ahmed and Omid Yaghini and Neda Hosseini and Maede Majidinezhad and Shahryar Alavi and Marjolein Bosma and Melissa H Broeks and Dil\&\#x15f;ad T\&\#xfc;rkdo\&\#x11f;an and Mohnish Suri and Laiz Laura de Godoy and Nanda M Verhoeven-Duif and Sheikh Riazuddin and Joseph G Gleeson and Cesar Alves and Judith J M Jans and Saima Riazuddin and Henry Houlden and Reza Maroofian}, year = {2025}, doi = {10.1016/j.gim.2025.101587}, url = {https://pubmed.ncbi.nlm.nih.gov/41001736/}, note = {Source identifier: 41001736} }