Associated Papers
Regulated degradation of KCC2, a potassium-chloride co-transporter required for synaptic transmission and neurodevelopment.
Kok M et al.
Channels (austin, Tex.), 2026
Novel Homozygous Full Gene Deletion of SLC12A5 in a Newborn With Refractory Seizures.
Wainman LM et al.
American Journal of Medical Genetics. Part A, 2025
Inefficient maturation of disease-linked mutant forms of the KCC2 potassium-chloride cotransporter correlates with predicted pathogenicity.
Kok M et al.
The Journal of Biological Chemistry, 2025
Uncovering novel KCC2 regulatory motifs through a comprehensive transposon-based mutant library.
Uvarov P et al.
Frontiers in Molecular Neuroscience, 2024
Intracellular Cl- dysregulation causing and caused by pathogenic neuronal activity.
Akita T et al.
Pflugers Archiv : European Journal of Physiology, 2020
Pathogenic potential of human SLC12A5 variants causing KCC2 dysfunction.
Fukuda A et al.
Brain Research, 2019
[A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy].
Till Á et al.
Orvosi Hetilap, 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
Identification of KCC2 Mutations in Human Epilepsy Suggests Strategies for Therapeutic Transporter Modulation.
Duy PQ et al.
Frontiers in Cellular Neuroscience, 2019
A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.
Saito T et al.
Clinical Genetics, 2017
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.
Saitsu H et al.
Scientific Reports, 2016
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