Associated Papers
Phenotypes in Brugada syndrome with different genotypes triggered by fever or inflammation using gene-edited iPSCs.
Li Y et al.
Stem Cell Research & Therapy, 2025
Genetic determinants of the phenotype in a Swedish cohort of patients with hypertrophic cardiomyopathy.
Antheia K et al.
Scientific Reports, 2025
41214182 (PubMed )
Supplement: 41598_2025_27238_MOESM1_ESM.pdf
A Preclinical Study on Brugada Syndrome with a CACNB2 Variant Using Human Cardiomyocytes from Induced Pluripotent Stem Cells.
Zhong R et al.
International Journal of Molecular Sciences, 2022
A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder.
Graziano C et al.
Journal of Autism and Developmental Disorders, 2021
Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review.
Liao X et al.
Molecular Brain, 2020
Autism-associated mutations in the CaVβ2 calcium-channel subunit increase Ba2+-currents and lead to differential modulation by the RGK-protein Gem.
Despang P et al.
Neurobiology of Disease, 2020
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
Autism throughout genetics: Perusal of the implication of ion channels.
Daghsni M et al.
Brain and Behavior, 2018
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 2017
Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders.
Heyes S et al.
Progress in Neurobiology, 2015
Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.
Breitenkamp AF et al.
Plos One, 2014
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Dorschner MO et al.
American Journal of Human Genetics, 2013
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