rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
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
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
New mutation of CACNA1A gene in episodic ataxia type 2.
21696515
2011
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
New mutation of CACNA1A gene in episodic ataxia type 2.
21696515
2011
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
20129625
2010
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
20129625
2010
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
18602318
2009
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
19232643
2009
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
19232643
2009
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
18602318
2009
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Clinical spectrum of episodic ataxia type 2.
14718690
2004
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
15173248
2004
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
15293273
2004
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
15293273
2004
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
15173248
2004
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Clinical spectrum of episodic ataxia type 2.
14718690
2004
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
12420090
2002
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
12420090
2002
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
BEFREE
The Glu 1757 Lys missense mutation is likely to be pathogenic, causing episodic ataxia within a family whose phenotype is indistinguishable from EA2 except for a slightly later age of onset.
11176968
2001
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
The Glu 1757 Lys missense mutation is likely to be pathogenic, causing episodic ataxia within a family whose phenotype is indistinguishable from EA2 except for a slightly later age of onset.
11176968
2001
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
11723274
2001
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
11723274
2001
rs121908227
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
Missense CACNA1A mutation causing episodic ataxia type 2.
11176968
2001
rs121908226
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
0.810
GeneticVariation
UNIPROT
A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.
10408533
1999