rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.
|
19811514 |
2010 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
|
26814174 |
2016 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Stepwise developmental regression associated with novel CACNA1A mutation.
|
18940563 |
2008 |
rs1318353774
|
|
A |
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 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CaV2.1 channelopathies.
|
20204399 |
2010 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
|
20156848 |
2010 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The genetic spectrum of a population-based sample of familial hemiplegic migraine.
|
17142831 |
2007 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
rs1318353774
|
|
A |
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 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
|
9403487 |
1997 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Familial paroxysmal ataxia: report of a family.
|
1564484 |
1992 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Migraine: gene mutations and functional consequences.
|
17495624 |
2007 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
|
25758715 |
2015 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.
|
15300451 |
2004 |
rs1318353774
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.
|
23441182 |
2013 |
rs1318353774
|
|
A |
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 |