NIPA2, NIPA magnesium transporter 2, 81614

N. diseases: 10; N. variants: 2
Disease: Absence Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014553
Disease: Absence Epilepsy
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: C0014553
Disease: Absence Epilepsy
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: C0014553
Disease: Absence Epilepsy
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