rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
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
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
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
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Magnetic resonance imaging in familial paroxysmal ataxia.
|
3358708 |
1988 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
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
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
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
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
|
21183743 |
2011 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
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
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
|
9436730 |
1998 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
|
9005860 |
1997 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
|
11564488 |
2001 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
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
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Migraine: gene mutations and functional consequences.
|
17495624 |
2007 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
The genetic spectrum of a population-based sample of familial hemiplegic migraine.
|
17142831 |
2007 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
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
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.
|
15300451 |
2004 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
CaV2.1 channelopathies.
|
20204399 |
2010 |
rs1057520918
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |