|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
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 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
|
9559993 |
1998 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.
|
9879686 |
1998 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.
|
20233618 |
2010 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
|
9559993 |
1998 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
|
23831250 |
2013 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Large CACNA1A deletion in a family with episodic ataxia type 2.
|
18541804 |
2008 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
|
9436730 |
1998 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
|
9436730 |
1998 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Large CACNA1A deletion in a family with episodic ataxia type 2.
|
18541804 |
2008 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
|
9005860 |
1997 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Magnetic resonance imaging in familial paroxysmal ataxia.
|
3358708 |
1988 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
|
20156848 |
2010 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
The genetic spectrum of a population-based sample of familial hemiplegic migraine.
|
17142831 |
2007 |