×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.200
CausalMutation
disease
CLINVAR
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.
25691416
2015
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.200
CausalMutation
disease
CLINVAR
Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein.
21685391
2011
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.200
CausalMutation
disease
CLINVAR
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
15863612
2005
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.200
CausalMutation
disease
CLINVAR
Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.
26822303
2016
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.200
CausalMutation
disease
CLINVAR
Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).
24773605
2014
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.200
CausalMutation
disease
CLINVAR
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
21910241
2011
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.200
CausalMutation
disease
CLINVAR
Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.
23580742
2013
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.200
CausalMutation
disease
CLINVAR
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.
23690510
2013
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.200
CausalMutation
disease
CLINVAR
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels.
18250309
2008
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
0.200
Biomarker
disease
BEFREE
CACNA1C gene screening was performed in 278 probands negative for LQTS -related gene mutations.
24728418
2014