Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements
These findings expand the phenotypic spectrum of GOT2 deficiency, establish it as a cause of developmental epileptic encephalopathy, and propose novel biomarkers for diagnosis and treatment.
Authors
- Hannah M German (ORCID: https://orcid.org/0000-0001-7522-5544)
- Maede Majidinezhad
- Hans van Bokhoven (ORCID: https://orcid.org/0000-0002-2153-9254)
- Joseph G. Gleeson (ORCID: https://orcid.org/0000-0002-0889-9220)
- Maha Saad Zaki (ORCID: https://orcid.org/0000-0001-7840-0002)
- Laiz Laura de Godoy (ORCID: https://orcid.org/0000-0001-5956-5741)
- Amama Ghaffar
- Stéphanie Efthymiou (ORCID: https://orcid.org/0000-0003-4900-9877)
- Cesar Alves (ORCID: https://orcid.org/0000-0001-5877-9086)
- Marjolein Bosma (ORCID: https://orcid.org/0000-0003-3841-1983)
- Melissa H. Broeks (ORCID: https://orcid.org/0000-0002-0010-3697)
- Zubair M. Ahmed (ORCID: https://orcid.org/0000-0003-2914-4502)
- Omid Yaghini (ORCID: https://orcid.org/0000-0002-0399-6531)
- Mohsin Shahzad (ORCID: https://orcid.org/0000-0003-1537-3195)
- Nanda M. Verhoeven‐Duif (ORCID: https://orcid.org/0000-0002-2016-5182)
- Mohnish Suri
- Muhammad Asad Usmani (ORCID: https://orcid.org/0009-0009-1441-5091)
- Judith Jans (ORCID: https://orcid.org/0000-0003-0960-6263)
- Mohamed S. Abdel‐Hamid (ORCID: https://orcid.org/0000-0002-2480-0147)
- Henry Houlden (ORCID: https://orcid.org/0000-0002-2866-7777)
- Reza Maroofian (ORCID: https://orcid.org/0000-0001-6763-1542)
- Shahryar Alavi (ORCID: https://orcid.org/0000-0002-3484-3423)
- Sheikh Riazuddin (ORCID: https://orcid.org/0000-0002-5671-0437)
- Irem Karagoz
- Neda Hosseini
- Saima Riazuddin
- Dilşad Türdoğan
- Haya Abdelhafez Arabiyat
Institutions
- Isfahan University of Medical Sciences (IR)
- University of Maryland, Baltimore (US)
- Boston Children's Hospital (US)
- Children’s Institute (US)
- Nottingham University Hospitals NHS Trust (GB)
- Harvard University (US)
- Radboud University Nijmegen (NL)
- Queen Mary University of London (GB)
- University of the Punjab (PK)
- Utrecht University (NL)
- Allama Iqbal Medical College (PK)
- Radboud University Medical Center (NL)
- University Medical Center Utrecht (NL)
- University of California San Diego (US)
- Shaheed Zulfiqar Ali Bhutto Institute of Science and Technology (PK)
- Ministry of Health (ES)
- National Research Centre (EG)
- MRC Prion Unit (GB)
- Centre of Excellence in Molecular Biology (PK)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- Pakistan Institute of Medical Sciences (PK)
- Marmara University (TR)
- University of Pennsylvania (US)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-09-24
- DOI
- https://doi.org/10.1016/j.gim.2025.101587
- Primary Topic
- Diet and metabolism studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- UK Research and Innovation
- Medical Research Council