TY  - JOUR
PY  - 2012//
TI  - An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene
JO  - Legal medicine (Elsevier)
A1  - Matsusue, Aya
A1  - Kashiwagi, Masayuki
A1  - Hara, Kenji
A1  - Waters, Brian
A1  - Sugimura, Tomoko
A1  - Kubo, Shin-ichi
SP  - 317
EP  - 319
VL  - 14
IS  - 6
N2  - 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>
LA  - en
SN  - 1344-6223
UR  - http://dx.doi.org/10.1016/j.legalmed.2012.04.009
ID  - ref1
ER  -