SLC12A2, solute carrier family 12 member 2, 6558

N. diseases: 128; N. variants: 7
Disease: Convulsions in the newborn ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn 		0.020 AlteredExpression disease 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: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn 		0.020 Biomarker disease 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