×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
18498393
2008
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Stepwise developmental regression associated with novel CACNA1A mutation.
18940563
2008
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
9436730
1998
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
15710862
2005
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Clinical spectrum of episodic ataxia type 2.
14718690
2004
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
9005860
1997
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
De novo mutations in epileptic encephalopathies.
23934111
2013
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
28742085
2017
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
20682717
2010
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
9403487
1997
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
11723274
2001
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
20129625
2010
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
21183743
2011
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
15483044
2004
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Familial paroxysmal ataxia: report of a family.
1564484
1992
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
16325861
2006
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.
20233618
2010
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.
19484318
2009
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Migraine: gene mutations and functional consequences.
17495624
2007
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
26814174
2016
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
8898206
1996
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
CausalMutation
group
CLINVAR
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
16043807
2005