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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
To better understand the role of the inward-rectifying K channel Kir4.1 (KCNJ10) in the distal nephron, we initially studied a global Kir4.1 knockout mouse (gKO), which demonstrated the hypokalemia and hypomagnesemia seen in SeSAME/EAST syndrome and was associated with reduced Na/Cl cotransporter (NCC) expression.
|
30110571 |
2018 |
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 |
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 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 |
UNIPROT |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
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 |
Patients clinically diagnosed with EAST syndrome were genotyped to identify and study mutations in KCNJ10.
|
21849804 |
2011 |
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 |
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 |
GENOMICS_ENGLAND |
Patients clinically diagnosed with EAST syndrome were genotyped to identify and study mutations in KCNJ10.
|
21849804 |
2011 |
SeSAME syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.
|
21088294 |
2010 |
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 |
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 |
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 |
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
|
19289823 |
2009 |
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 |
BEFREE |
Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy.
|
19420365 |
2009 |
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 |