|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.
|
9488686 |
1998 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data have implications for EA2 in humans, suggesting a haploinsufficiency mechanism at least for some of the CACNA1A mutations leading to a premature stop codon.
|
21440913 |
2011 |
|
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 |
UNIPROT |
We have identified a novel H1736L missense mutation in the CACNA1A gene associated with the EA2 phenotype.
|
15293273 |
2004 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
|
11179022 |
2001 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
|
12420090 |
2002 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
EA2-causing missense and nonsense mutations in CACNA1A produced mutant channels with diminished whole cell calcium channel activity in vitro due to loss of function.
|
11723274 |
2001 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings suggest that early cerebellar dysfunction in EA2 results from the intrinsically abnormal properties of the CACNA1A channel rather than a degenerative process.
|
14681882 |
2003 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the CACNA1A gene on chromosome 19 encoding a calcium channel subunit cause EA-2, which is characterized by recurrent attacks of imbalance with interictal eye movement abnormalities.
|
10408533 |
1999 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The authors report three patients with EA2 (two with proven mutations in the CACNA1A gene) whose attacks were prevented with the potassium channel blocker 4-aminopyridine (4-AP; 5 mg tid).
|
15136697 |
2004 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe EA2 with unusual features in a father and daughter with a novel CACNA1A mutation coding for Y248C.
|
18602318 |
2009 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene.
|
11971066 |
2002 |
|
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 |
Patients with congenital presynaptic failure, including two patients with episodic ataxia type 2 (EA-2) due to CACNA1A mutations, were studied with muscle biopsy, microelectrode studies, electron microscopy, DNA amplification, and sequencing.
|
14592859 |
2003 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
|
15173248 |
2004 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous studies suggest that most EA2 cases are associated with mutations in the alpha1A subunit of the P/Q-type voltage-gated calcium channel gene CACNA1A.
|
16043807 |
2005 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.
|
11814735 |
2002 |