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
Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea.
Han JY et al.
Biomedicines, 2024
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.
Türkyılmaz A et al.
Neurogenetics, 2024
Environmental regulation of the chloride transporter KCC2: switching inflammation off to switch the GABA on?
Pozzi D et al.
Translational Psychiatry, 2020
Intracellular Cl- dysregulation causing and caused by pathogenic neuronal activity.
Akita T et al.
Pflugers Archiv : European Journal of Physiology, 2020
Loss of non-canonical KCC2 functions promotes developmental apoptosis of cortical projection neurons.
Mavrovic M et al.
Embo Reports, 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
The genetics and molecular biology of fever-associated seizures or epilepsy.
Deng H et al.
Expert Reviews in Molecular Medicine, 2018
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
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
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stödberg T et al.
Nature Communications, 2015
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.
Merner ND et al.
Frontiers in Cellular Neuroscience, 2015
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
Kahle KT et al.
Embo Reports, 2014
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
Puskarjov M et al.
Embo Reports, 2014
Molecular and evolutionary insights into the structural organization of cation chloride cotransporters.
Hartmann AM et al.
Frontiers in Cellular Neuroscience, 2014
KCC2 rs2297201 Gene Polymorphism Might be a Predictive Genetic Marker of Febrile Seizures.
Dimitrijevic S et al.
Asn Neuro, 0