From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy.

Sudden cardiac death is a sudden, unexpected death developed by one of the many different causes of cardiac arrest that occur within 1 hour of the onset of new symptoms. Sudden unexplained death (SUD) comprises a normal heart at postmortem examination and negative toxicological analysis. SUD often arises from cardiac genetic disease, particularly channelopathies. Channelopathies, or inherited arrhythmia syndromes, are a group of disorders characterized by an increased risk of sudden cardiac death, abnormal cardiac electrical function, and, typically, a structurally normal heart. They share an underlying genetic etiology where disease-causing genetic variants may lead to the absence or dysfunction of proteins involved in the generation and propagation of the cardiac action potential. Our study aimed to evaluate the importance of next-generation sequencing in the postmortem investigations of SUD cases. In this study, 5 forensic SUD cases were investigated for inherited cardiac disorders. We screened a total of 68 cardiac genes for the sibling of case 1, as well as case 2, and 51 genes for cases 3, 4, and 5. Of the 12 variants identified, 2 likely pathogenic variants (16.7%) were the TMEM43 _ c.1000+2T>C splice site mutation and the SCN5A _ p.W703X nonsense mutation. The remaining 10 variants of uncertain significance were detected in the TRPM4 , RANGRF , A KAP9 , KCND3 , KCNE1 , DSG2 , CASQ1 , and SNTA1 genes. Irrespective of genetic testing, all SUD families require detailed clinical testing to identify relatives who may be at risk. Molecular autopsy and detailed premorbid clinical and family histories can survive family members of SUD cases.

Public awareness of, attitudes toward, and understanding of epilepsy in Isparta, Turkey.

The social stigma attached to epilepsy very often constitutes a considerable problem and much private grief for patients and their relatives. This study was aimed at investigating "perceivers"' awareness of, attitudes toward, and understanding of epilepsy in Isparta, Turkey. Using a questionnaire survey, we interviewed, face-to-face, a random sample of 582 persons older than 18, excluding persons with epilepsy or those with relatives who had epilepsy. Eighty-one percent of respondents had heard of epilepsy, 47% knew a person with epilepsy, and 54% had seen an epileptic seizure. Somewhat less knowledgable were the elderly and less educated individuals. Attitudes toward social acceptance and employment of persons with epilepsy were generally negative, especially to children's associations and marriage. Twelve percent considered epilepsy as a form of insanity. Although understanding of epilepsy was favorable, the results indicate that there exists significant discrimination against persons with epilepsy, and there is a need to implement public education campaigns.