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Article

A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.

Heart and vessels - 1 Jul 2018

Yokoyama Ryosuke, Kinoshita Koshi, Hata Yukiko, Abe Masayoshi, Matsuoka Kenta, Hirono Keiichi, Kano Masanobu, Nakazawa Makoto, Ichida Fukiko, Nishida Naoki, Tabata Toshihide

Abstract excerpt

We found that a female infant presenting with left bundle branch block and left ventricular noncompaction carries uninvestigated gene mutations HCN4(G811E), SCN5A(L1988R), DMD(S2384Y), and EMD(R203H). Here, we explored the possible pathogenicity of HCN4(G811E), which results in a G811E substitution in hyperpolarization-activated cyclic nucleotide-gated channel 4, the main subunit of the cardiac pacemaker channel....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29349559
DOI: 10.1007/s00380-018-1116-6

Genes

HCN4
DMD
EMD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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