Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders
Author:
Affiliation:
1. Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA
Abstract
Publisher
Oxford University Press (OUP)
Subject
Neurology (clinical)
Link
http://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awab259/39198926/awab259.pdf
Reference10 articles.
1. Modulation of GABAergic transmission in development and neurodevelopmental disorders: Investigating physiology and pathology to gain therapeutic perspectives;Deidda;Front Cellular Neurosci,2014
2. Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons;Mermer;Brain,2021
3. Cloning of the human brain GABA transporter;Nelson;FEBS Lett,1990
4. GAT-1, a high-affinity GABA plasma membrane transporter, is localized to neurons and astroglia in the cerebral cortex;Minelli;J Neurosci,1995
5. GABA Transporter-1 (GAT1)-deficient mice: differential tonic activation of GABAA versus GABAB receptors in the hippocampus;Jensen;J Neurophysiol,2003
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