Associated Papers
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction.
Kovermann P et al.
Ebiomedicine, 2025
The role of excitatory amino acid transporter 2 (EAAT2) in epilepsy and other neurological disorders.
Alijanpour S et al.
Metabolic Brain Disease, 2023
Functional investigation of SLC1A2 variants associated with epilepsy.
Qu Q et al.
Cell Death & Disease, 2022
Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function.
Kovermann P et al.
Epilepsia, 2022
Molecular Basis of Coupled Transport and Anion Conduction in Excitatory Amino Acid Transporters.
Alleva C et al.
Neurochemical Research, 2022
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Critical amino acids in the TM2 of EAAT2 are essential for membrane-bound localization, substrate binding, transporter function and anion currents.
Mai D et al.
Journal of Cellular and Molecular Medicine, 2021
Amino Acid Transport Defects in Human Inherited Metabolic Disorders.
Yahyaoui R et al.
International Journal of Molecular Sciences, 2019
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Stergachis AB et al.
Annals of Neurology, 2019
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Unknown Author
American Journal of Human Genetics, 2016
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