title: Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome.
abstract: 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.
authors.affiliation: Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark. mic@ssi.dk
authors.forename: Michael
authors.initials: M
authors.lastname: Christiansen
authors.forename: Niels
authors.initials: N
authors.lastname: Tønder
authors.forename: Lars A
authors.initials: LA
authors.lastname: Larsen
authors.forename: Paal S
authors.initials: PS
authors.lastname: Andersen
authors.forename: Henrik
authors.initials: H
authors.lastname: Simonsen
authors.forename: Nina
authors.initials: N
authors.lastname: Oyen
authors.forename: Jørgen K
authors.initials: JK
authors.lastname: Kanters
authors.forename: Joes R
authors.initials: JR
authors.lastname: Jacobsen
authors.forename: Inger
authors.initials: I
authors.lastname: Fosdal
authors.forename: Gøran
authors.initials: G
authors.lastname: Wettrell
authors.forename: Keld
authors.initials: K
authors.lastname: Kjeldsen
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D006801:Humans; D007223:Infant; D008133:Long QT Syndrome / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics*; D013398:Sudden Infant Death / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*; D000071230:Transcriptional Regulator ERG
chemical_list: D004268:DNA-Binding Proteins; C072312:ERG protein, human; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; D015221:Potassium Channels; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG