Article
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Lancet (London, England) - 14 Apr 2018
Männikkö Roope, Wong Leonie, Tester David J, Thor Michael G, Sud Richa, Kullmann Dimitri M, Sweeney Mary G, Leu Costin, Sisodiya Sanjay M, FitzPatrick David R, Evans Margaret J, Jeffrey Iona J M, Tfelt-Hansen Jacob, Cohen Marta C, Fleming Peter J, Jaye Amie, Simpson Michael A, Ackerman Michael J, Hanna Michael G, Behr Elijah R, Matthews Emma
Abstract excerpt
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability...
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