SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Gene and protein expression of NKCC1, KCC2 and KCC2 phosphorylated serine (KCC2 ser) 940 were measured 1 h post seizure termination and on PND 15 using RT- PCR and western blot. 31691144 2020
CUI: C0036572
Disease: Seizures
Seizures
0.400 AlteredExpression phenotype BEFREE KCC2 overexpression prevents the paradoxical seizure-promoting action of somatic inhibition. 30874549 2019
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Our previous work demonstrates that prenatal stress with betamethasone-induced alterations to the expression of the K<sup>+</sup>/Cl<sup>-</sup> co-transporter (KCC2) in gamma-aminobutyric acid (GABA) interneurons lowers the seizure threshold in exposed animals. 31495081 2019
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Thus, our results demonstrate that potentiating KCC2 represents a therapeutic strategy to alleviate seizures. 30224498 2018
CUI: C0036572
Disease: Seizures
Seizures
0.400 AlteredExpression phenotype BEFREE Our results showed that: (1) Blockade of calpain by non-selective calpain inhibitor MDL-28170 prevented convulsant stimulation induced KCC2 downregulation, and reduced the incidence and the severity of pentylenetetrazole (PTZ) induced seizures. 30186110 2018
CUI: C0036572
Disease: Seizures
Seizures
0.400 AlteredExpression phenotype BEFREE We will also go through recent findings regarding the molecular mechanisms underlying the changes in KCC2 activity that occur following seizures. 29197650 2018
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Repeated induction of seizures caused a decrease in KCC2 protein content in the inferior colliculus and hippocampus and an increase in the pons-medulla. 26071997 2017
CUI: C0036572
Disease: Seizures
Seizures
0.400 AlteredExpression phenotype BEFREE Our findings novelly demonstrated that altered expression of KCC2 is not the consequence of seizure occurrence but likely is the contributing factor. 28279020 2017
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Impairment of Cl<sup>-</sup> extrusion after KCC2 dysfunction has been involved in many central nervous system disorders, such as seizures, neuropathic pain, or spasticity, after a spinal cord injury (SCI). 28747093 2017
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype CTD_human A thallium transport FLIPR-based assay for the identification of KCC2-positive modulators. 20086212 2010
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Mice that lack both KCC2 isoforms die at birth due to severe motor defects, including disrupted respiratory rhythm, whereas mice with a targeted disruption of the first exon of KCC2b survive for up to 2 weeks but eventually die due to spontaneous seizures. 17715129 2007