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Torsades de Pointes electrical storm in children with KCNH2 mutations.

BMC medical genomics - 11 Oct 2024

Zhang Li, Xu Meng, Yan Zhen, Han Yan, Jiang Xunwei, Xiao Tingting, Hou Cuilan, Li Yun

Abstract excerpt

Congenital long QT syndrome (LQTS) is a genetic heart disorder, which may lead to life-threatening arrhythmias, especially in children. Here, we reported two children who were initially misdiagnosed with epilepsy and experienced Torsades de Pointes (TdP) cardiac electrical storm (ES). Through whole exome sequencing (WES), we identified two Potassium voltage-gated channel subfamily H member 2 (KCHN2) mutations...

Topics

Humans
Child
Female
Male
Torsades de Pointes
ERG1 Potassium Channel
Adolescent
Mutation
Long QT Syndrome
Exome Sequencing
Electrocardiography

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Identifiers

PMID: 39394151
DOI: 10.1186/s12920-024-02025-z
PMCID: PMC11468024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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