NIPA2, NIPA magnesium transporter 2, 81614

N. diseases: 10; N. variants: 2
Disease: Childhood Absence Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		0.030 GeneticVariation disease BEFREE To reveal the pathogenesis and find the precision treatment for the childhood absence epilepsy (CAE) patients with NIPA2 mutations. 30895737 2019
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		0.030 Biomarker disease BEFREE This study primarily reveals that a selective magnesium transporter NIPA2 may play a role in the pathogenesis of CAE. 25347071 2014
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		0.030 Biomarker disease BEFREE We first identified that NIPA2, encoding a selective magnesium transporter, is a susceptible gene of CAE, and 15q11.2 microdeletions are important pathogenic CNVs for CAE with higher frequency in Chinese populations than that previously reported in Caucasians. 22367439 2012