SLC12A2, solute carrier family 12 member 2, 6558

N. diseases: 128; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 AlteredExpression disease BEFREE The finding that NKCC1 did not play a major role in NRT neurons is of high relevance for ongoing studies on the therapeutic use of NKCC1 inhibitors trying to compensate for a disease-induced up-regulation of NKCC1 that has been described for various brain regions and disease states like epilepsy and chronic pain. 30224811 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease BEFREE Large amounts of Cl<sup>-</sup> influx can overwhelm Cl<sup>-</sup> extrusion during seizures not only in healthy tissue in a short-term "activity-dependent" manner, but also in chronic epilepsy in a long-term, irreversible "pathology-dependent" manner related to the dysfunction of two chloride transporters: the chloride importer NKCC1 and the chloride exporter KCC2. 30201259 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease BEFREE Vitexin reduces epilepsy after hypoxic ischemia in the neonatal brain via inhibition of NKCC1. 29925377 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease BEFREE Abnormal functionality of NKCC1 has been implicated in several brain disorders, including epilepsy. 27088517 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease BEFREE These findings point to a key role of Cl(-) transporters KCC2 and NKCC1 in tumor-related epilepsy, suggesting a more specific drug therapy and surgical approaches for the epileptic patients afflicted by brain tumors. 21635237 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease CTD_human Long-term expressional changes of Na+ -K+ -Cl- co-transporter 1 (NKCC1) and K+ -Cl- co-transporter 2 (KCC2) in CA1 region of hippocampus following lithium-pilocarpine induced status epilepticus (PISE). 18550034 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease BEFREE We conclude that the anomalous expression of both Cl(-) transporters, NKCC1 and KCC2 [corrected] in TLE hippocampal subiculum probably causes altered Cl(-) transport in the "epileptic" neurons, as revealed in the microtransplanted Xenopus oocytes, and renders GABA aberrantly "exciting," a feature that may contribute to the precipitation of epileptic seizures. 16709666 2006