Associated Papers
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction.
Kovermann P et al.
Ebiomedicine, 2025
Apo state pore opening as functional basis of increased EAAT anion channel activity in episodic ataxia 6.
Suslova M et al.
Frontiers in Physiology, 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
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
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Stergachis AB et al.
Annals of Neurology, 2019
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I et al.
American Journal of Human Genetics, 2017
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