Brugada Syndrome (disorder)
|
0.570 |
Biomarker
|
disease |
CLINGEN |
To the best of our knowledge, for the first time in the literature, we described a congenitally deaf-mute patient with Brugada syndrome (BrS) in whom a mutation in L-type Ca<sup>+2</sup> channel [CACNA1C (Ca<sub>v</sub>1.2α1)] was identified.
|
28401855 |
2019 |
Brugada Syndrome (disorder)
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
CACNA1C (NM_000719.6) encodes an L-type calcium voltage-gated calcium channel (Ca<sub>v</sub> 1.2), and pathogenic variants have been associated with two distinct clinical entities: Timothy syndrome and Brugada syndrome.
|
30513141 |
2018 |
Brugada Syndrome (disorder)
|
0.570 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Emerging therapeutic targets in the short QT syndrome.
|
29697308 |
2018 |
Brugada Syndrome (disorder)
|
0.570 |
Biomarker
|
disease |
CLINGEN |
To examine how the synonymous CACNA1C mutation p.R632R produces the phenotype of BrS, with a special emphasis on the splicing error and NMD processes.
|
24321233 |
2014 |
Brugada Syndrome (disorder)
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
We report a rare CACNA1C mutation as causing BrS and/or shortened QT interval in a family also carrying a SCN5A stop mutation, but which does not segregate with BrS.
|
25341504 |
2014 |
Brugada Syndrome (disorder)
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
To examine how the synonymous CACNA1C mutation p.R632R produces the phenotype of BrS, with a special emphasis on the splicing error and NMD processes.
|
24321233 |
2014 |
Brugada Syndrome (disorder)
|
0.570 |
Biomarker
|
disease |
CLINGEN |
We identified 6 CACNA1C mutations in BrS and IVF patients and their phenotypes were varied.
|
23575362 |
2013 |
Brugada Syndrome (disorder)
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
We identified 6 CACNA1C mutations in BrS and IVF patients and their phenotypes were varied.
|
23575362 |
2013 |
Brugada Syndrome (disorder)
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Functional expression of two CACNA1C mutations associated with BrS and BrS+SQT led to loss of function in calcium channel current.
|
20817017 |
2010 |
Brugada Syndrome (disorder)
|
0.570 |
Biomarker
|
disease |
CLINGEN |
Functional expression of two CACNA1C mutations associated with BrS and BrS+SQT led to loss of function in calcium channel current.
|
20817017 |
2010 |
Brugada Syndrome (disorder)
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have demonstrated an association between mutations in CACNA1c or CACNB2b and Brugada syndrome (BrS).
|
19358333 |
2009 |
Brugada Syndrome (disorder)
|
0.570 |
Biomarker
|
disease |
CLINGEN |
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
|
17224476 |
2007 |
Brugada Syndrome (disorder)
|
0.570 |
GeneticVariation
|
disease |
LHGDN |
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
|
17224476 |
2007 |
Brugada Syndrome (disorder)
|
0.570 |
Biomarker
|
disease |
CLINGEN |
Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart.
|
8392192 |
1993 |