|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case of episodic ataxia type 2 with a novel pathogenic variant in CACNA1A is described.
|
31640633 |
2019 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Detection of CACNA1A mutations facilitates the diagnosis of EA2.
|
29883219 |
2019 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.
|
28169007 |
2017 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A exonic deletions have also been reported in EA2 using quantitative approaches.
|
28566750 |
2017 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2.
|
28688851 |
2017 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
|
27250579 |
2016 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
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 |
|
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 |
|
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 |