|
Episodic ataxia type 1
|
1.000 |
Biomarker
|
disease |
MGD |
A mouse model of episodic ataxia type-1.
|
12612586 |
2003 |
|
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 |
UNIPROT |
Numerous missense mutations have been described previously in KCNA1 that cause EA1.
|
15532032 |
2004 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.
|
12077175 |
2002 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Episodic ataxia results from voltage-dependent potassium channels with altered functions.
|
8845167 |
1995 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
|
8541859 |
1995 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
|
10355668 |
1999 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Affected members in Family D (KCNA1 G1210A) exhibit attacks typical of EA1.
|
11026449 |
2000 |
|
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 |
Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.
|
11013453 |
2000 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.
|
8871592 |
1996 |
|
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 |
UNIPROT |
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
|
17136396 |
2007 |
|
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 |
UNIPROT |
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
|
7842011 |
1994 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three novel KCNA1 mutations in episodic ataxia type I families.
|
9600245 |
1998 |
|
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation.
|
27730449 |
2016 |