rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
rs1131691712
|
|
GA |
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 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
|
20682717 |
2010 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Magnetic resonance imaging in familial paroxysmal ataxia.
|
3358708 |
1988 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
|
26814174 |
2016 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
The International Classification of Headache Disorders, 3rd edition (beta version).
|
23771276 |
2013 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
|
20097664 |
2010 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
|
9403487 |
1997 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
|
9559993 |
1998 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Migraine: gene mutations and functional consequences.
|
17495624 |
2007 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
|
9005860 |
1997 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
The genetic spectrum of a population-based sample of familial hemiplegic migraine.
|
17142831 |
2007 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Large CACNA1A deletion in a family with episodic ataxia type 2.
|
18541804 |
2008 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.
|
19484318 |
2009 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |