rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.
|
28169007 |
2017 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1.
|
25274239 |
2014 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
A |
0.800 |
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 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
New mutation of CACNA1A gene in episodic ataxia type 2.
|
21696515 |
2011 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
|
20129625 |
2010 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
|
19232643 |
2009 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
|
18602318 |
2009 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
|
15293273 |
2004 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
|
15173248 |
2004 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.
|
11814735 |
2002 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene.
|
11971066 |
2002 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
|
12420090 |
2002 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense CACNA1A mutation causing episodic ataxia type 2.
|
11176968 |
2001 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.
|
10408533 |
1999 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.
|
10987655 |
1999 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.
|
10024348 |
1999 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.
|
9488686 |
1998 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
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 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
rs121908212
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
Episodic ataxia type 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |