×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
BEFREE
A case of episodic ataxia type 2 with a novel pathogenic variant in CACNA1A is described.
31640633
2019
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
BEFREE
CACNA1A mutations underlie three allelic disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6).
30063100
2019
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
BEFREE
Detection of CACNA1A mutations facilitates the diagnosis of EA2 .
29883219
2019
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
CausalMutation
CLINVAR
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
28742085
2017
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
CausalMutation
CLINVAR
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.
28169007
2017
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
BEFREE
CACNA1A exonic deletions have also been reported in EA2 using quantitative approaches.
28566750
2017
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
Biomarker
MGD
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2.
28688851
2017
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
Biomarker
GENOMICS_ENGLAND
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
27250579
2016
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
BEFREE
Episodic ataxia type 2 is caused by mutations in CACNA1A , which encodes the pore-forming subunit of the neuronal voltage-gated calcium channel Cav2.1.
26912519
2016
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
Biomarker
GENOMICS_ENGLAND
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
27476654
2016
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
BEFREE
We describe a four generation family showing different phenotypes ranging from EA2 to SCA6 and carrying the p.D302N CACNA1A gene mutation.
27871455
2016
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
CLINVAR
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
26795593
2016
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
CausalMutation
CLINVAR
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
27066515
2016
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
CausalMutation
CLINVAR
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
27250579
2016
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
BEFREE
CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2 ), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6).
25735478
2015
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
CausalMutation
CLINVAR
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
25735478
2015
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
Biomarker
MGD
The Ca(2+) channelopathies caused by mutations of the CACNA1A gene that encodes the pore-forming subunit of the human Cav2.1 (P/Q-type) voltage-gated Ca(2+) channel include episodic ataxia type 2 (EA2 ).
25855180
2015
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
CLINVAR
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
25735478
2015
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
CausalMutation
CLINVAR
Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up.
24270521
2014
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
CausalMutation
CLINVAR
Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2.
24420976
2014
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
BEFREE
Episodic ataxia type-2 (EA2) is a dominantly inherited human neurological disorder caused by loss of function mutations in the CACNA1A gene, which encodes the CaV2.1 subunit of P/Q-type voltage-gated calcium channels.
24768804
2014
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
BEFREE
Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2 ) and familial hemiplegic migraine type 1 (FHM1) are allelic disorders of the gene CACNA1A encoding the P/Q subunit of a voltage gated calcium channel.
24486772
2014
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
GeneticVariation
BEFREE
To better understand the pathomechanisms of this disorder in vivo, we created the first genetic animal model of EA2 by engineering a mouse line carrying the EA2 -causing c.4486T>G (p.F1406C ) missense mutation in the orthologous mouse Cacna1a gene.
25109669
2014
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
Biomarker
MGD
To better understand the pathomechanisms of this disorder in vivo, we created the first genetic animal model of EA2 by engineering a mouse line carrying the EA2 -causing c.4486T>G (p.F1406C) missense mutation in the orthologous mouse Cacna1a gene.
25109669
2014
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
CausalMutation
CLINVAR
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1.
25274239
2014