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Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome

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In a 7-week-old infant who experienced sudden infant death syndrome (SIDS), a novel missense mutation was identified in KCNH2, causing a lysine-to-glutamic acid amino acid substitution at position 101 (K101E). KCNH2 codes for the HERG ion channel and mutations in the gene are associated with congenital long-QT syndrome (LQTS), and in the family of this case of SIDS, the mutation was associated with Torsades de pointes tachycardia, making SIDS the most likely outcome of congenital LQTS.

Original languageEnglish
JournalThe American journal of cardiology
Volume95
Issue number3
Pages (from-to)433-4
Number of pages2
ISSN0002-9149
DOIs
Publication statusPublished - 2005

    Research areas

  • DNA-Binding Proteins/genetics, ERG1 Potassium Channel, Ether-A-Go-Go Potassium Channels, Humans, Infant, Long QT Syndrome/genetics, Mutation/genetics, Potassium Channels/genetics, Sudden Infant Death/genetics, Trans-Activators/genetics, Transcriptional Regulator ERG

ID: 55071856