Associated Papers
Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia.
Wang Q et al.
Bmc Cardiovascular Disorders, 2024
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Dahimene S et al.
Brain : a Journal of Neurology, 2022
35293990 (PubMed )
Supplement: awac081_supplementary_data.pdf
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1
Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.
Zhang Q et al.
Channels (austin, Tex.), 2018
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
Functional characterization of CaVα2δ mutations associated with sudden cardiac death.
Bourdin B et al.
The Journal of Biological Chemistry, 2015
The genetic component of Brugada syndrome.
Nielsen MW et al.
Frontiers in Physiology, 2013
Inherited calcium channelopathies in the pathophysiology of arrhythmias.
Venetucci L et al.
Nature Reviews. Cardiology, 2012
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
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