Associated Papers
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.
German HM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene.
Çapan ÖY et al.
Seizure, 2024
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK et al.
Nutrients, 2022
AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.
Pardo B et al.
International Journal of Molecular Sciences, 2022
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
van Karnebeek CDM et al.
American Journal of Human Genetics, 2019
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