Author/Authors :
Christiansen، نويسنده , , Michael and Tّnder، نويسنده , , Niels and Larsen، نويسنده , , Lars A. and Andersen، نويسنده , , Paal S. and Simonsen، نويسنده , , Henrik and طyen، نويسنده , , Nina and Kanters، نويسنده , , Jّrgen K. and Jacobsen، نويسنده , , Joes R. and Fosdal، نويسنده , , Inger and Wettrell، نويسنده , , Gّran and Kjeldsen، نويسنده , , Keld، نويسنده ,
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.
