SLC12A2, solute carrier family 12 member 2, 6558

N. diseases: 128; N. variants: 7
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.030 Biomarker phenotype BEFREE Based on the potential role of Na-K-Cl cotransporters (NKCCs) in epileptic seizures, the loop diuretic bumetanide, which blocks the NKCC1 isoforms NKCC1 and NKCC2, has been tested as an adjunct with phenobarbital to suppress seizures. 30248303 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.030 Biomarker phenotype BEFREE Up-regulation of NKCC1 in neurons has been shown to be involved in neonatal seizures and in ammonia toxicity-induced seizures. 27586142 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.030 Biomarker phenotype BEFREE Our results provide evidence that NKCC1 facilitates seizures in the developing brain and indicate that bumetanide should be useful in the treatment of neonatal seizures. 16227993 2005