Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A5
Variant:p.S940A
Back to variants list

SLC12A5

NM_020708.5:p.S940A

Associated Papers

KCC2 activation during postnatal development alleviates long-term deficits in CDKL5-deficient mice.

Arshad MN et al.

Experimental & Molecular Medicine, 2026

The brain-specific kinase LMTK3 regulates neuronal excitability by decreasing KCC2-dependent neuronal Cl- extrusion.

Cho N et al.

Iscience, 2024

Excitatory/inhibitory balance in epilepsies and neurodevelopmental disorders: Depolarizing γ-aminobutyric acid as a common mechanism.

van van Hugte EJH et al.

Epilepsia, 2023

K+/Cl- cotransporter 2 (KCC2) and Na+/HCO3- cotransporter 1 (NBCe1) interaction modulates profile of KCC2 phosphorylation.

Pethe A et al.

Frontiers in Cellular Neuroscience, 2023

SNAP23 regulates KCC2 membrane insertion and activity following mZnR/GPR39 activation in hippocampalneurons.

Asraf H et al.

Iscience, 2022

Targeting ischemia-induced KCC2 hypofunction rescues refractory neonatal seizures and mitigates epileptogenesis in a mouse model.

Sullivan BJ et al.

Science Signaling, 2021

Physiological Processes Modulated by the Chloride-Sensitive WNK-SPAK/OSR1 Kinase Signaling Pathway and the Cation-Coupled Chloride Cotransporters.

Murillo-de-Ozores AR et al.

Frontiers in Physiology, 2020

Impaired regulation of KCC2 phosphorylation leads to neuronal network dysfunction and neurodevelopmental pathology.

Pisella LI et al.

Science Signaling, 2019

Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival.

Watanabe M et al.

Science Signaling, 2019

Crossing the Chloride Channel: The Current and Potential Therapeutic Value of the Neuronal K+-Cl- Cotransporter KCC2.

Tillman L et al.

Biomed Research International, 2019

Developmental Regulation of KCC2 Phosphorylation Has Long-Term Impacts on Cognitive Function.

Moore YE et al.

Frontiers in Molecular Neuroscience, 2019

Seizing Control of KCC2: A New Therapeutic Target for Epilepsy.

Moore YE et al.

Trends in Neurosciences, 2017

The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.

Kahle KT et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2016

Compromising KCC2 transporter activity enhances the development of continuous seizure activity.

Kelley MR et al.

Neuropharmacology, 2016

KCC2 activity is critical in limiting the onset and severity of status epilepticus.

Silayeva L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Identification of key functional domains in the C terminus of the K+-Cl- cotransporters.

Bergeron MJ et al.

The Journal of Biological Chemistry, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."