|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
|
9436730 |
1998 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
|
25758715 |
2015 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.
|
19811514 |
2010 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
|
9403487 |
1997 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
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 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
|
9559993 |
1998 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.
|
23441182 |
2013 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
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 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Stepwise developmental regression associated with novel CACNA1A mutation.
|
18940563 |
2008 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
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 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Large CACNA1A deletion in a family with episodic ataxia type 2.
|
18541804 |
2008 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
|
11564488 |
2001 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
|
20156848 |
2010 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Familial paroxysmal ataxia: report of a family.
|
1564484 |
1992 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |