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...

Full description

Bibliographic Details

Published in:	EBioMedicine
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
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