|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Familial paroxysmal ataxia: report of a family.
|
1564484 |
1992 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Familial paroxysmal ataxia: report of a family.
|
1564484 |
1992 |
|
| 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 |
Magnetic resonance imaging in familial paroxysmal ataxia.
|
3358708 |
1988 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
|
| 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 |
CausalMutation |
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 |
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 |
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 |
CausalMutation |
CLINVAR |
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
|
9403487 |
1997 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
|
9403487 |
1997 |
|
| 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 |
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 |
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 |
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 |
CausalMutation |
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 |
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
|
11179022 |
2001 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
|
11179022 |
2001 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
|
11564488 |
2001 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
|
11564488 |
2001 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |