|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.
|
15300451 |
2004 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |
|
rs1555756091
|
|
TA |
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 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
|
rs1555756091
|
|
TA |
0.700 |
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 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
|
11564488 |
2001 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
|
9436730 |
1998 |
|
rs1555756091
|
|
TA |
0.700 |
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 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
|
9559993 |
1998 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
|
9403487 |
1997 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
|
9005860 |
1997 |
|
rs1555756091
|
|
TA |
0.700 |
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 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Familial paroxysmal ataxia: report of a family.
|
1564484 |
1992 |
|
rs1555756091
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Magnetic resonance imaging in familial paroxysmal ataxia.
|
3358708 |
1988 |