Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome. 29476442 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities. 29191078 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE This study identifies potential SNPs of KCNJ10 gene that may contribute to seizure susceptibility and anti-epileptic drug resistance. 25874548 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE Kir4.1 inwardly rectifying channel (KCNJ10) is one of the independent genes reported to be associated with seizure susceptibility. 24378235 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and tubulopathy that becomes clinically apparent with seizures in infancy. 23471908 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE It was also observed that the variant, p.Arg271Cys in KCNJ10, previously thought to have a protective effect against seizure susceptibility, was found in a patient with Pendred syndrome with co-existing epilepsy. 23965030 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability. 21458570 2011
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE The purpose of the present study was to determine whether there are differences in Kir channel activity and potassium- and glutamate-buffering capabilities between astrocytes from seizure resistant C57BL/6 (B6) and seizure susceptible DBA/2 (D2) mice that are consistent with an altered K(+) channel activity as a result of genetic polymorphism of KCNJ10. 20831751 2010
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE Recent genetic linkage studies have identified an association between missense variations in the gene encoding the Kir4.1 potassium channel (KCNJ10) and seizure susceptibility phenotypes in both humans and mice. 15936844 2005
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE The present replication study tested the initial finding that the KCNJ10 Cys271 allele is associated with seizure resistance to common syndromes of idiopathic generalized epilepsy (IGE). 15725393 2005
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype BEFREE Quantitative trait loci mapping in mice led to identification of genetic variation in the potassium ion channel gene Kcnj10, implicating it as a putative seizure susceptibility gene. 15120748 2004
CUI: C0036572
Disease: Seizures
Seizures 		0.200 Biomarker phenotype HPO