Article
Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome.
Circulation. Cardiovascular genetics - 1 Oct 2011
Tester David J, Tan Bi-Hua, Medeiros-Domingo Argelia, Song Chunhua, Makielski Jonathan C, Ackerman Michael J
Abstract excerpt
BACKGROUND: Approximately 10% of sudden infant death syndrome (SIDS) may stem from cardiac channelopathies. The KCNJ8-encoded Kir6.1 (K(ATP)) channel critically regulates vascular tone and cardiac adaptive response to systemic metabolic stressors, including sepsis. KCNJ8-deficient mice are prone to premature sudden death, particularly with infection. We determined the spectrum, prevalence, and function of KCNJ8...
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