rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
|
20097664 |
2010 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.
|
20233618 |
2010 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
|
20682717 |
2010 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The International Classification of Headache Disorders, 3rd edition (beta version).
|
23771276 |
2013 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
|
12707077 |
2003 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
|
21183743 |
2011 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
|
23831250 |
2013 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Large CACNA1A deletion in a family with episodic ataxia type 2.
|
18541804 |
2008 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
|
20129625 |
2010 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
|
9005860 |
1997 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Magnetic resonance imaging in familial paroxysmal ataxia.
|
3358708 |
1988 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
|
9559993 |
1998 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.
|
19484318 |
2009 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
|
11564488 |
2001 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
|
9436730 |
1998 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |