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 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.
|
29191078 |
2018 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Seizures
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|