Long QT Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
These data further bolster the conclusion that CACNA1C is a bona fide, definite evidence long-QT syndrome susceptibility gene.
|
31430211 |
2019 |
Long QT Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function variants in the CACNA1C-encoded L-type calcium channel (LTCC, Ca<sub>v</sub>1.2) cause type 8 long QT syndrome (LQT8).
|
30172029 |
2019 |
Long QT Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site.
|
31408100 |
2019 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.
|
26822303 |
2016 |
Long QT Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Perturbations in the CACNA1C-encoded L-type calcium channel α-subunit have been linked recently to heritable arrhythmia syndromes, including Timothy syndrome, Brugada syndrome, early repolarization syndrome, and long QT syndrome.
|
27218670 |
2016 |
Long QT Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two probands were identified with mutations in CACNA1C, one with a TS-associated mutation, G406R, and a second with genotype-negative LQTS.
|
27390944 |
2016 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.
|
25691416 |
2015 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2?
|
26227324 |
2015 |
Long QT Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We conclude that genotype-negative LQTS patients should be investigated for mutations in CACNA1C, as a gain-of-function in Cav1.2 is likely to cause LQTS and only specific and rare mutations, i.e. in exon 8, cause the multi-systemic TS.
|
25633834 |
2015 |
Long QT Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome.
|
26253506 |
2015 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.
|
26253506 |
2015 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Imaging diagnosis-ultrasonographic and CT findings in a gray seal (Halichoerus grypus) with hepatic cirrhosis, pyelonephritis, and nephrolithiasis.
|
23578275 |
2014 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain.
|
23979604 |
2014 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).
|
24773605 |
2014 |
Long QT Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
CACNA1C gene screening was performed in 278 probands negative for LQTS-related gene mutations.
|
24728418 |
2014 |
Long QT Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ channel underlie rare forms of long QT syndrome (LQTS), and Timothy syndrome (TS).
|
25184293 |
2014 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
|
23631430 |
2013 |
Long QT Syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
|
23677916 |
2013 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.
|
23580742 |
2013 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.
|
23690510 |
2013 |
Long QT Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Subsequent mutational analysis identified 3 additional variants within CACNA1C in our cohort of 102 unrelated cases of genotype-negative/phenotype-positive LQTS.
|
23677916 |
2013 |
Long QT Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
In tandem, the role of 9 genes for monogenic long QT syndrome (LQT1-9) was assessed, yielding evidence of association with CACNA1C (LQT8; p = 3.09 × 10(-4); OR = 1.18, 95% CI:1.079, 1.290).
|
21658281 |
2011 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein.
|
21685391 |
2011 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
|
21910241 |
2011 |
Long QT Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.
|
19074970 |
2009 |