|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
EA2-causing missense and nonsense mutations in CACNA1A produced mutant channels with diminished whole cell calcium channel activity in vitro due to loss of function.
|
11723274 |
2001 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
EA2-causing missense and nonsense mutations in CACNA1A produced mutant channels with diminished whole cell calcium channel activity in vitro due to loss of function.
|
11723274 |
2001 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
|
12420090 |
2002 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
|
12420090 |
2002 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type-2 (EA2) is a dominantly inherited human neurological disorder caused by loss of function mutations in the CACNA1A gene, which encodes the CaV2.1 subunit of P/Q-type voltage-gated calcium channels.
|
24768804 |
2014 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 2 is caused by mutations in CACNA1A, which encodes the pore-forming subunit of the neuronal voltage-gated calcium channel Cav2.1.
|
26912519 |
2016 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
|
9302278 |
1997 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
|
9302278 |
1997 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6).
|
25735478 |
2015 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A exonic deletions have also been reported in EA2 using quantitative approaches.
|
28566750 |
2017 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A mutations underlie three allelic disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6).
|
30063100 |
2019 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case of episodic ataxia type 2 with a novel pathogenic variant in CACNA1A is described.
|
31640633 |
2019 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel de novo pathogenic mutation in the CACNA1A gene.
|
23038654 |
2012 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
|
21734179 |
2011 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An association between hemiplegic migraine (HM) and episodic ataxia type 2 (EA2) has been described; both disorders are linked to mutations in the CACNA1A gene.
|
19624685 |
2010 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
|
27250579 |
2016 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
|
27250579 |
2016 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By means of transient linear acceleration of the whole body along the interaural axis, we examined the LVOR in six patients with hereditary cerebellar ataxia due to mutations of the calcium channel gene CACNA1A, five with spinocerebellar ataxia type 6 (SCA6) and one with episodic ataxia type 2 (EA-2).
|
11701595 |
2001 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.
|
19486177 |
2009 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2.
|
28688851 |
2017 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation.
|
15452324 |
2004 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation.
|
23071170 |
2012 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |