Falk MJ et al. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD Rep, 2014. 14: p. 77-85. PMID: 24515575.
Kavanaugh BC et al. Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification. Am J Med Genet A, 2019. 179(11): p. 2284-2291 PMID: 31403263.
Nashabat M et al. The landscape of early infantile epileptic encephalopathy in a consanguineous population. Seizure, 2019. 69: p. 154-172 PMID: 31054490.
Kose M et al. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum. J Pediatr Endocrinol Metab, 2021. 34(4): p. 417-430. PMID: 33629572.
Pfeiffer B et al. Expanding Phenotypic Spectrum of Cerebral Aspartate–Glutamate Carrier Isoform 1 (AGC1) Deficiency. Neuropediatrics, 2020. 51(02): p. 160-163. PMID: 31766059.
Saleh M, Helmi M, and Yacop B. A Novel Nonsense Gene Variant Responsible for Early Infantile Epileptic Encephalopathy Type 39: Case Report. Pakistan journal of biological sciences : PJBS, 2020. 23(7): p. 973-976. PMID: 32700846.
Bölsterli BK et al. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients, 2022. 14(17): p. 3605. PMID: 36079864.