Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model.

doi:10.1016/j.hrthm.2022.08.021

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model.

Heart rhythm - 1 Jan 2023

Kashiwa Asami, Makiyama Takeru, Kohjitani Hirohiko, Maurissen Thomas L, Ishikawa Taisuke, Yamamoto Yuta, Wuriyanghai Yimin, Gao Jingshan, Huang Hai, Imamura Tomohiko, Aizawa Takanori, Nishikawa Misato, Chonabayashi Kazuhisa, Mishima Hiroyuki, Ohno Seiko, Toyoda Futoshi, Sato Seiichi, Yoshiura Koh-Ichiro, Takahashi Kazuhiro, Yoshida Yoshinori, Woltjen Knut, Horie Minoru, Makita Naomasa, Kimura Takeshi

Abstract excerpt

BACKGROUND: A missense mutation in the α1c subunit of voltage-gated L-type Ca2+ channel-coding CACNA1C-E1115K, located in the Ca2+ selectivity site, causes a variety of arrhythmogenic phenotypes. OBJECTIVE: We aimed to investigate the electrophysiological features and pathophysiological mechanisms of CACNA1C-E1115K in patient-specific induced pluripotent stem cell (iPSC)-derived cardiomyocytes (CMs). METHODS: We...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Action Potentials

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Brugada Syndrome

Share to Calcium Channels, L-Type

Share to Cardiac electrophysiology and arrhythmias

Share to Induced Pluripotent Stem Cells

Share to Long QT Syndrome

Share to Myocytes, Cardiac

Share to Phenotype

Source

Open in PubMed

Identifiers

PMID: 36007726
DOI: 10.1016/j.hrthm.2022.08.021

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model.PMID 36007726Read ↗

Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel PerturbationSemantic proximity Read ↗

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.Semantic proximity Read ↗

Atrial-Specific KCNQ1 Channelopathy Drives Arrhythmogenesis and Unmasks Amiodarone Proarrhythmia in a Human iPSC ModelSemantic proximity Read ↗

Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.Semantic proximity Read ↗

Patient-specific iPSC-derived cardiomyocytes reveal variable phenotypic severity of Brugada syndrome.Semantic proximity Read ↗

Patient-Specific and Genome-Edited Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Brugada Syndrome.Semantic proximity Read ↗

Modeling genetic cardiac channelopathies using induced pluripotent stem cells - Status quo from an electrophysiological perspective.Semantic proximity Read ↗

Increased L-type calcium current causes action potential prolongation in Jervell and Lange-Nielsen syndrome and is a drug targetSemantic proximity Read ↗

Identification of an INa-dependent and Ito-mediated proarrhythmic mechanism in cardiomyocytes derived from pluripotent stem cells of a Brugada syndrome patient.Semantic proximity Read ↗

The G213D variant in Nav1.5 alters sodium current and causes an arrhythmogenic phenotype resulting in a multifocal ectopic Purkinje-related premature contraction phenotype in human-induced pluripotent stem cell-derived cardiomyocytes.Semantic proximity Read ↗

Comparative Analysis of Genetic Variations in the Nav1.5 Sodium Channel Subunits that Underlie Brugada Syndrome Using Patient-Specific iPSC-CMsSemantic proximity Read ↗

NaV1.5 knockout in iPSCs: a novel approach to study NaV1.5 variants in a human cardiomyocyte environment.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.