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
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
The structural basis of function and regulation of neuronal cotransporters NKCC1 and KCC2.
Zhang S et al.
Communications Biology, 2021
Pathogenic potential of human SLC12A5 variants causing KCC2 dysfunction.
Fukuda A et al.
Brain Research, 2019
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L07
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
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