Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome
M Christiansen, N Tønder, LA Larsen… - The American journal of …, 2005 - Elsevier
The American journal of cardiology, 2005•Elsevier
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.
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.
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.
Elsevier