Abstract：
:A cohort of 52 French unrelated infant cases who died unexpectedly before they reached 12 months of age was blindly investigated to better quantify the contribution of long-QT syndrome (LQTS) genetic variants in French cases of sudden infant death syndrome (SIDS). After a standardized autopsy protocol, a blinded molecular screening of the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was performed on each case. These postmortem investigations enabled us to reclassify 18 as non-SIDS cases, 32 as SIDS cases, and 2 as suspected SIDS cases. Among the 18 non-SIDS cases, no LQTS mutation was identified. In contrast, our results led to a possible explanation for the death of at least three infants in the SIDS cohort. Half of the LQTS gene variants identified were located on the SCN5A gene. This study confirms that LQTS mutations may represent one of the leading genetic causes of SIDS. If autopsy fails to provide an explanation for an unexplained infant death, medicolegal investigation should be extended with a molecular screening of major LQTS genes. Identification of more LQTS mutations in SIDS cases could provide new insights into the pathophysiology of SIDS and, consequently, reduce the number of unexplained sudden infant deaths.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Millat G,Kugener B,Chevalier P,Chahine M,Huang H,Malicier D,Rodriguez-Lafrasse C,Rousson Rdoi
10.1007/s00246-009-9417-2subject
Has Abstractpub_date
2009-05-01 00:00:00pages
502-9issue
4eissn
0172-0643issn
1432-1971journal_volume
30pub_type
杂志文章abstract：:Since its first description in Japan 30 years ago, Kawasaki disease has been reported worldwide. Although an infectious etiology is suspected based on the epidemiology and clinical features, a causative agent has not been identified. The majority of the morbidity and mortality associated with this condition is attribu...
journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/s002469900436
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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doi：10.1007/s00246-011-9948-1
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journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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更新日期：2009-05-01 00:00:00
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journal_title：Pediatric cardiology
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更新日期：2004-07-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
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journal_title：Pediatric cardiology
pub_type： 杂志文章
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journal_title：Pediatric cardiology
pub_type： 杂志文章
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更新日期：2000-07-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章,多中心研究
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更新日期：2013-02-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
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journal_title：Pediatric cardiology
pub_type： 杂志文章
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更新日期：2016-01-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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