|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in the KCNA1 gene, which encodes the voltage-gated potassium channel Kv1.1, are responsible for Episodic Ataxia Type 1 (EA1).
|
30055040 |
2018 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 (EA1).
|
28676720 |
2017 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 1 (EA1) is an autosomal dominant channelopathy caused by mutations in KCNA1, which encodes the voltage-gated potassium channel, Kv1.1.
|
27271339 |
2016 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Taken together, we provide genetic and functional evidence that mutation p.Arg324Thr in the KCNA1 gene is pathogenic and results in episodic ataxia type 1 through a dominant-negative effect.
|
27477325 |
2016 |
|
Episodic ataxia type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation.
|
27730449 |
2016 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Herein, we critically evaluate the molecular and biophysical characteristics of the KV1.1 protein in comparison with others and discuss their role in the greater penetrance of KCNA1 mutations in humans leading to the neurological signs of episodic ataxia type 1 (EA1).
|
26825872 |
2016 |
|
Episodic ataxia type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Episodic ataxia type 1 phenocopies have not been described previously and we report their clinical features, which appear to be different to those with a KCNA1 mutation.
|
24578548 |
2014 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in KCNA1 and CACNA1A genes are associated with episodic ataxia type 1 and type 2, respectively.
|
24275721 |
2014 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.
|
23909822 |
2013 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction and persistent neuromyotonia.
|
23349320 |
2013 |
|
Episodic ataxia type 1
|
1.000 |
Biomarker
|
disease |
RGD |
Animal models for EA1 include Kcna1-deficient mice, which recessively display severe seizures and die prematurely, and V408A-knock-in mice, which dominantly exhibit stress-induced loss of motor coordination.
|
22206926 |
2012 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Animal models for EA1 include Kcna1-deficient mice, which recessively display severe seizures and die prematurely, and V408A-knock-in mice, which dominantly exhibit stress-induced loss of motor coordination.
|
22206926 |
2012 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene KCNA1 that encodes the voltage-gated potassium channel Kv1.1 are responsible for EA1.
|
21307345 |
2011 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.
|
19903818 |
2010 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results broaden the range of KCNA1 mutations and reveal an unexpectedly large contribution of nongenetic factors to phenotypic variability in EA1.
|
20660867 |
2010 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of KCNA1, the gene encoding potassium channel Kv1.1 subunits, cause episodic ataxia type 1 (EA1), which is characterized by paroxysmal cerebellar incoordination and interictal myokymia.
|
19779067 |
2010 |
|
Episodic ataxia type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
|
19307729 |
2009 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
|
19307729 |
2009 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
|
18926884 |
2008 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 1 (EA1) is an autosomal-dominant neurological disease caused by point mutations in the potassium channel-encoding gene KCNA1.
|
17912752 |
2008 |
|
Episodic ataxia type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
|
17136396 |
2007 |
|
Episodic ataxia type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.
|
17156368 |
2006 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Numerous missense mutations have been described previously in KCNA1 that cause EA1.
|
15532032 |
2004 |