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Article

Influence of genetic modifiers on sudden cardiac death cases.

International journal of legal medicine - 1 Mar 2018

Jenewein Tina, Neumann Thomas, Erkapic Damir, Kuniss Malte, Verhoff Marcel A, Thiel Gerhard, Kauferstein Silke

Abstract excerpt

Sequence variants in the ion channel genes KCNH2 and SCN5A may cause the cardiac disorder long QT syndrome (LQTS). This disorder is associated with incomplete penetrance and variable expression in KCNH2- or SCN5A-mutation carriers. Common genetic variants, if associated with a mutation, may affect the severity of this cardiac disorder. This study identified rare mutations in the cardiac ion channel genes KCNH2...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29214556
DOI: 10.1007/s00414-017-1739-7

Genes

KCNH2
SCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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