The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunctionResearch in context

The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunctionResearch in context

Summary: Background: Excitatory amino acid transporter 2 (EAAT2) is the predominant glutamate transporter and a key mediator of excitatory neurotransmission in the human brain. Here we present a cohort of 18 individuals harbouring 13 different SLC1A2 variants, who all present with neurodevelopmenta...

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Main Authors: Peter Kovermann, Allan Bayat, Christina D. Fenger, Lisette Leeuwen, Artem Borovikov, Artem Sharkov, Virginie Levrat, Gaetan Lesca, Laurence Perrin, Jonathan Levy, Christoph Fahlke, Rikke S. Møller, Anders A. Jensen
Format: Article
Language:English
Published: Elsevier 2025-04-01
Series:EBioMedicine
Subjects:
Epilepsy
SLC1A2
Excitatory amino acid transporter 2 (EAAT2)
Genetic variants
Transporter uptake
Patch clamp
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396425000921
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http://www.sciencedirect.com/science/article/pii/S2352396425000921

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