|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.
|
22527033 |
2012 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.
|
17376154 |
2007 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
To obtain further insight into the contribution of SCA6 mutations to the phenotypic variability in Dutch patients with ataxia.
|
11708993 |
2001 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
|
18976783 |
2009 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Episodic ataxia type 2 is a prototypical episodic vertigo and ataxia syndrome that is caused by mutations in the calcium channel gene CACNA1A.
|
11796946 |
2002 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Stepwise developmental regression associated with novel CACNA1A mutation.
|
18940563 |
2008 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In the ataxia group, we found (CAG)n above the range of the asymptomatic blood donors in SCA3 (21.74%) followed by SCA2 (5.22%), SCA7 (2.61%), SCA6 (0.87%), and no cases of SCA1.
|
20069235 |
2009 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
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 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
LHGDN |
We identified a novel CACNA1A mutation (nucleotides 1253+1 G-->A) that was present in all subjects with febrile spells or ataxia.
|
14681882 |
2003 |
|
Ataxia
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Given the dependence of γ-aminobutyric acid type A (GABAA) receptor subunit functioning on localized calcium currents, and the functional link between GABAergic inhibition and ataxia, we hypothesized that cerebellar GABAA receptor expression is differentially affected in Cacna1a mutants and contributes to the ataxic phenotype.
|
26208839 |
2015 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Expansion of the CAG/polyQ region of CACNA1A occurs within α1ACT and leads to ataxia.There are few animal models of SCA6.
|
25954029 |
2015 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Although relatively rare in SCA6, the presence of dystonia was associated with slower progression of ataxia.
|
29089256 |
2017 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
|
28007337 |
2017 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Familial hemiplegic migraine type 1 (FHM-1) is an autosomal dominant form of migraine with aura characterized by recurrent migraine, hemiparesis and ataxia.
|
23430985 |
2013 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Genetically confirmed CACNA1A cases were retrieved from the database of the ataxia outpatient clinic of the Department of Neurology at Innsbruck Medical University.
|
30063100 |
2019 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In over 50% of cases the causative gene is CACNA1A (FHM1), which in some cases produces a phenotype with cerebellar signs, including ataxia and nystagmus.
|
15459825 |
2004 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/spasticity disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2; 9) the benign hereditary chorea locus on 14q; 10) the SCA type 5 locus on chromosome 11; and 11) the chromosome 19 region that contains several ion channels and the CACNA1A gene, a brain-specific P/Q-type calcium channel gene associated with ataxia and hemiplegic migraine.
|
11310626 |
2001 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We identified a novel CACNA1A mutation (nucleotides 1253+1 G-->A) that was present in all subjects with febrile spells or ataxia.
|
14681882 |
2003 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
LHGDN |
We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms.
|
14534930 |
2003 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
On the basis of the neuropathological identity of SCA 6 with CCA, and of the effect of gabapentin and pregabalin on recombinant VDCCs the authors put forward the hypothesis that these drugs might prove beneficial in SCA 6, as the ataxia would be expected to improve.
|
17489948 |
2007 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT.
|
19520699 |
2009 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia.
|
15210532 |
2004 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
DNA sequencing and gene expression data demonstrate that Cacnl1a4 mutations are the primary cause of seizures and ataxia in tottering and leaner mutant mice, and suggest that tottering locus mutations and human diseases, episodic ataxia 2 and familial hemiplegic migraine, represent mutations in mouse and human versions of the same channel-encoding gene.
|
9060410 |
1997 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations at the mouse orthologue of the CACNA1A gene cause a group of recessive neurological disorders, including the tottering, leaner, and rocker phenotypes with ataxia and absence epilepsy, and the rolling Nagoya phenotype with ataxia without seizures.
|
11890456 |
2002 |