SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have studied the impact of KCNJ10 mutations on the human electroretinogram (ERG) in four unrelated patients with EAST syndrome.
|
21300747 |
2011 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We could rescue the morphant phenotype with complementary RNA (cRNA) encoding human wild-type KCNJ10, but not with cRNA encoding a KCNJ10 mutation identified in individuals with EAST syndrome.
|
23471908 |
2013 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene.
|
23924083 |
2013 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients clinically diagnosed with EAST syndrome were genotyped to identify and study mutations in KCNJ10.
|
21849804 |
2011 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
|
31640787 |
2019 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
|
19289823 |
2009 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.
|
24561201 |
2014 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients diagnosed clinically with EAST syndrome were genotyped and mutations in KCNJ10 were studied functionally.
|
24193250 |
2013 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the K(+) channel KCNJ10 (Kir4.1) cause an autosomal recessive syndrome featuring seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME).
|
22907601 |
2012 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).
|
20807765 |
2010 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
SeSAME syndrome
|
1.000 |
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 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy.
|
19420365 |
2009 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated the localization of KCNJ10 and the homologous KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in our patients with EAST syndrome.
|
20651251 |
2010 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl.
|
29722015 |
2019 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present cases harboring novel homozygous frameshift mutations in KCNJ10 expand the spectrum of brain abnormalities in EAST syndrome, including mild cerebellar atrophy and intramyelinic edema, resulting from abnormal function of the Kir4.1 inwardly rectifying potassium channel at the astrocyte endfeet, with disruption of water-ion homeostasis.
|
29666984 |
2018 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
|
19289823 |
2009 |
SeSAME syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy.
|
19420365 |
2009 |
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
|
19426954 |
2009 |
Pendred's syndrome
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Our results link KCNJ10 mutations with EVA/PS and provide further support for the model of EVA/PS as a multigenic complex disease.
|
19426954 |
2009 |
Pendred's syndrome
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We also used this approach to scan for mutations in KCNJ10 and FOXI1, two genes reported to play a role in the pathogenesis of Pendred syndrome and enlarged vestibular aqueduct.
|
21366435 |
2011 |
Pendred's syndrome
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
|
23965030 |
2013 |
Amyotrophic Lateral Sclerosis
|
0.210 |
GeneticVariation
|
disease |
BEFREE |
Progressive loss of a glial potassium channel (KCNJ10) in the spinal cord of the SOD1 (G93A) transgenic mouse model of amyotrophic lateral sclerosis.
|
16925593 |
2006 |
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 |