SLC8A1, solute carrier family 8 member A1, 6546

N. diseases: 146; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.320 AlteredExpression phenotype BEFREE Specifically, seizure activity has been shown to alter the messenger RNA (mRNA) and protein expression of voltage-gated sodium channels (Na<sub>v</sub> 1.1, Na<sub>v</sub> 1.5), voltage-gated potassium channels (K<sub>v</sub> 4.2, K<sub>v</sub> 4.3), sodium-calcium exchangers (NCX1), and nonspecific cation-conducting channels (HCN2, HCN4). 31353444 2019
CUI: C0036572
Disease: Seizures
Seizures
0.320 AlteredExpression phenotype BEFREE In this study, the expression level of NCX1-3 in the entorhinal cortex (EC) and hippocampus (Hp); and the effects of blockade of NCXs on the seizures induced by 4-Aminopyridine (4-AP) were analysed in adult rats after neonatal MSG treatment. 28486943 2017
CUI: C0036572
Disease: Seizures
Seizures
0.320 Biomarker phenotype CTD_human Here we further investigated the role of NCX in the etiology of seizures by quantifying the effects of KB-R7943 and SN-6, potent inhibitors of the reverse mode of NCX subtypes 3 (NCX3) and 1 (NCX1), respectively, on the occurrence of acute seizures and status epilepticus induced by intraperitoneal administration of pilocarpine, a muscarinic acetylcholine receptor agonist. 20888801 2010