|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
|
27066515 |
2016 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
|
27250579 |
2016 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expansion of the CAG/polyQ region of CACNA1A occurs within α1ACT and leads to ataxia.There are few animal models of SCA6.
|
25954029 |
2015 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Here, we studied the cerebellar gene expression patterns of young Sca6-MPI(118Q/118Q) knockin (KI) mice, which expressed mutant Cav2.1 from an endogenous locus and recapitulated many phenotypic features of human SCA6.
|
26034136 |
2015 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
|
26077168 |
2015 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
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 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are distinct neurological disorders associated with mutations in the CACNA1A gene.
|
25266619 |
2014 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CACNA1A gene, encoding the α1 subunit of the voltage-gated calcium channel Ca(V)2.1 (P/Q-type), have been associated with three neurological phenotypes: familial and sporadic hemiplegic migraine type 1 (FHM1, SHM1), episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 (SCA6).
|
24836863 |
2014 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One family with spinocerebellar ataxia type 6 and 2 families with other CACNA1A gene mutations were identified.
|
24898624 |
2014 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up.
|
24270521 |
2014 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2.
|
24420976 |
2014 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
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 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1.
|
25274239 |
2014 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
The causative gene for EA2 is CACNA1A which codes for the alpha 1A subunit of the voltage-gated P/Q-type calcium channel (Cav2.1).
|
24658662 |
2014 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Suppression of CACNA1A IRES function in SCA6 may be a potential therapeutic strategy.
|
23827678 |
2013 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel CACNA1A mutation and an unclassified CACNA1A in-frame variant in a Swiss family presenting as the episodic ataxia type 2 phenotype associated with reduced saccade velocity.
|
24046065 |
2013 |