Associated Papers
Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia.
Wang Q et al.
Bmc Cardiovascular Disorders, 2024
Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits.
Hessenberger M et al.
Handbook of Experimental Pharmacology, 2023
Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.
Kaur S et al.
Journal of Cell Communication and Signaling, 2021
Investigating the genetic susceptibility to exertional heat illness.
Gardner L et al.
Journal of Medical Genetics, 2020
Putative role of Brugada syndrome genes in familial atrial fibrillation.
Maltese PE et al.
European Review for Medical and Pharmacological Sciences, 2019
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.
Zhang Q et al.
Channels (austin, Tex.), 2018
Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
Santolini I et al.
Epilepsia, 2017
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Nunn LM et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2016
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
Functional characterization of CaVα2δ mutations associated with sudden cardiac death.
Bourdin B et al.
The Journal of Biological Chemistry, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.
Risgaard B et al.
Clinical Genetics, 2013
The genetic component of Brugada syndrome.
Nielsen MW et al.
Frontiers in Physiology, 2013
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.
Crotti L et al.
Journal of the American College of Cardiology, 2012
Rare copy number variants are an important cause of epileptic encephalopathies.
Mefford HC et al.
Annals of Neurology, 2011
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel.
Napolitano C et al.
Circulation Research, 2011