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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
|
19289823 |
2009 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1.
|
9367690 |
1997 |
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 |
Biomarker
|
disease |
BEFREE |
Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.
|
21088294 |
2010 |
SeSAME syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina.
|
10908613 |
2000 |
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 |
Biomarker
|
disease |
MGD |
Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination.
|
11466414 |
2001 |
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 |
Biomarker
|
disease |
BEFREE |
A number of studies have shown that mutations in <i>KCNJ10</i> are associated with SeSAME/EAST syndrome, which is characterized by seizures, ataxia, sensorineural deafness, and electrolyte imbalance.
|
31781151 |
2019 |
SeSAME syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy.
|
19420365 |
2009 |
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 |
Biomarker
|
disease |
MGD |
Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit.
|
12618319 |
2003 |
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 |
Biomarker
|
disease |
BEFREE |
This review on EAST syndrome outlines the molecular aspects of the physiology and pathophysiology of KCNJ10 in the distal convoluted tubule.
|
21221631 |
2011 |
SeSAME syndrome
|
1.000 |
Biomarker
|
disease |
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 |
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 |