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Article

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.

BMC cardiovascular disorders - 12 Aug 2023

Zhao Nongnong, Yu Zhengyang, Cai Zhejun, Chen Wenai, He Xiaopeng, Huo Zhaoxia, Lin Xiaoping

Abstract excerpt

OBJECTIVES: Long QT syndrome (LQTS) is one of the primary causes of sudden cardiac death (SCD) in youth. Studies have identified mutations in ion channel genes as key players in the pathogenesis of LQTS. However, the specific etiology in individual families remains unknown. METHODS: Three unrelated Chinese pedigrees diagnosed with LQTS or Jervell and Lange-Nielsen syndrome (JLNS) were recruited clinically. Whole...

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Identifiers

PMID: 37568094
DOI: 10.1186/s12872-023-03417-2
PMCID: PMC10422715

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