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.

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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

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article

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements

Hannah M German, Maede Majidinezhad, Hans van Bokhoven, Joseph G. Gleeson et al.
Genetics in Medicine
Diet and metabolism studies
article

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements

Hannah M German, Maede Majidinezhad, Hans van Bokhoven, Joseph G. Gleeson, Maha Saad Zaki, Laiz Laura de Godoy, Amama Ghaffar, Stéphanie Efthymiou, Cesar Alves, Marjolein Bosma, Melissa H. Broeks, Zubair M. Ahmed, Omid Yaghini, Mohsin Shahzad, Nanda M. Verhoeven‐Duif, Mohnish Suri, Muhammad Asad Usmani, Judith Jans, Mohamed S. Abdel‐Hamid, Henry Houlden, Reza Maroofian, Shahryar Alavi, Sheikh Riazuddin, Irem Karagoz, Neda Hosseini, Saima Riazuddin, Dilşad Türdoğan, Haya Abdelhafez Arabiyat
article en

Abstract

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.

Genetics in MedicineVol. 27(12)
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)
UK Research and Innovation, Medical Research Council
Openalex Percentile: Top 67%
Diet and metabolism studies
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