|
| 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 |
GeneticVariation |
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 |
GeneticVariation |
CLINVAR |
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
|
20682717 |
2010 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
|
20682717 |
2010 |
|
| 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 |
CausalMutation |
CLINVAR |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
|
| 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 |
CausalMutation |
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 |
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 |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
CaV2.1 channelopathies.
|
20204399 |
2010 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
CaV2.1 channelopathies.
|
20204399 |
2010 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
|
| 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 |
GeneticVariation |
CLINVAR |
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
|
20097664 |
2010 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
|
20097664 |
2010 |
|
| 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 |
CausalMutation |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |