|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
For this case-control study, we recruited seven children with ASD either comorbid or not with epilepsy and/or EEG paroxysmal abnormalities (AEP) carrying GoF mutations of KCNJ10 and seven children with similar phenotypes but wild-type for the same gene, comparing period-amplitude features of slow waves detected by fronto-central bipolar EEG derivations (F3-C3, F4-C4, and Fz-Cz) during daytime naps.
|
31722434 |
2019 |
|
Epilepsy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The present study demonstrated that H3K9me2 and G9a are sensitive to epileptic seizure activity during the acute phase of epilepsy and can affect the transcriptional regulation of the Kcnj10 channel.
|
29115470 |
2018 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that G/T genotype of the KCNJ10 gene rs2486253 polymorphism affects risk for development of common types of childhood epilepsy.
|
25008907 |
2015 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we performed a mutational screening of KCNJ10 in 52 patients with epilepsy of "unknown cause" associated with impairment of either cognitive or communicative abilities, or both.
|
21458570 |
2011 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME)/epilepsy, ataxia, sensorineural deafness, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and hypokalemic alkalosis.
|
21633011 |
2011 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing a constellation of symptoms, including epilepsy, ataxia, sensorineural deafness and a renal tubulopathy designated as EAST syndrome.
|
21300747 |
2011 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Combined, our K(+) and extracellular volume recordings indicate that compromised K(+) spatial buffering in brain underlies the epilepsy phenotype associated with human KCNJ10 mutations.
|
21748805 |
2011 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by epilepsy, ataxia, sensorineural deafness, and a salt-wasting tubulopathy.
|
21221631 |
2011 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the KCNJ10 (Kir4.1) K(+) channel underlie autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy (EAST) syndrome.
|
20651251 |
2010 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Rodent models for genetically complex epilepsy have been studied for many years, but only recently have strong candidate genes emerged, including Cacna1 g in the GAERS rat model of absence epilepsy and Kcnj10 in the low seizure threshold of DBA/2 mice.
|
19665252 |
2009 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Restriction fragment length polymorphism (RFLP) analysis, SSCP and Pyrosequencing were used to genotype a single nucleotide polymorphism (SNP, dbSNP rs#1130183) in KCNJ10 in epilepsy patients (n = 407) and unrelated controls (n = 284).
|
15120748 |
2004 |