@article{ref1,
title="An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene",
journal="Legal medicine (Elsevier)",
year="2012",
author="Matsusue, Aya and Kashiwagi, Masayuki and Hara, Kenji and Waters, Brian and Sugimura, Tomoko and Kubo, Shin-ichi",
volume="14",
number="6",
pages="317-319",
abstract="SCN5A (sodium channel, voltage-gated, type V, alpha subunit) gene encodes the cardiac sodium channel, a member of the voltage-gated sodium channel family. SCN5A mutations have been associated with a variety of inherited arrhythmias, including long QT syndrome and Brugada syndrome. We report an autopsy case of sudden unexpected nocturnal death syndrome. A man in his thirties died at night while sleeping. At autopsy, no traumatic injury, disease or drug intake was observed as a possible cause of death. We examined mutations in the SCN5A gene and identified a heterozygous mutation causing an R1193Q amino acid substitution. It was reported that the R1193Q polymorphism in the SCN5A gene destabilizes channel inactivation and may be a risk factor for Brugada and long QT syndrome. It may be considered that the cause of death in this case was sudden cardiac death.<p /> <p>Language: en</p>",
language="en",
issn="1344-6223",
doi="10.1016/j.legalmed.2012.04.009",
url="http://dx.doi.org/10.1016/j.legalmed.2012.04.009"
}