|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In humans, SLC12A6 variants cause "agenesis of the corpus callosum with peripheral neuropathy" (ACCPN, alias Andermann syndrome), owing to a dysfunction of this K<sup>+</sup>-Cl<sup>-</sup> cotransporter.
|
31160700 |
2019 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.
|
30868738 |
2019 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
Biomarker
|
disease |
BEFREE |
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.
|
28647557 |
2017 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
Biomarker
|
disease |
BEFREE |
Among them, KCC3 has been the subject of great attention in view of its important role in the nervous system and its association with a rare hereditary sensorimotor neuropathy (called Andermann syndrome) that affects many individuals in Quebec province (Canada).
|
28814402 |
2017 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
|
26392352 |
2015 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
|
24341143 |
2013 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.
|
22462673 |
2012 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
|
21628467 |
2011 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (KCC3) cause hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), which is a severe neurodegenerative disease characterized by axonal dysfunction and neurodevelopmental defects.
|
21628467 |
2011 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with corpus callosum agenesis (Andermann syndrome) that often manifests with epileptic seizures.
|
20352446 |
2010 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.
|
20020398 |
2009 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, recessively inherited mutations of SLC12A6 cause Andermann syndrome, characterized by agenesis of the corpus callosum, which is associated with peripheral neuropathy and psychoses.
|
18536702 |
2009 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The potassium-chloride co-transporter 3 (KCC3) is mutated in hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC); however, the molecular mechanisms of HMSN/ACC pathogenesis and the exact role of KCC3 in the development of the nervous system remain poorly understood.
|
18566107 |
2008 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.
|
18566107 |
2008 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
KCC3 mutations in exon 22 constitute a recurrent mutation site for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), regardless of ethnic origin, and are the most common cause of HMSN/ACC in the non-French Canadian (FC) families analyzed so far.
|
17893295 |
2007 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
|
17893295 |
2007 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Not only truncating but also missense mutations of the KCC3 gene are associated with Andermann syndrome.
|
16606917 |
2006 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.
|
16606917 |
2006 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
Biomarker
|
disease |
MGD |
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.
|
14532115 |
2003 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
|
12838516 |
2003 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC12A6 in the development and maintenance of the nervous system.
|
12368912 |
2002 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
Biomarker
|
disease |
MGD |
Our findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC12A6 in the development and maintenance of the nervous system.
|
12368912 |
2002 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Our findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC12A6 in the development and maintenance of the nervous system.
|
12368912 |
2002 |
|
Corpus callosum agenesis neuronopathy
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC12A6 in the development and maintenance of the nervous system.
|
12368912 |
2002 |