We identified SCN1A variants in 2 infants who died of sudden infant death syndrome (SIDS) with hippocampal abnormalities from an exome sequencing study of 10 cases of SIDS but no history of seizures. One harbored SCN1A G682V, and the other had 2 SCN1A variants in cis: L1296M and E1308D, a variant previously associated with epilepsy. Functional evaluation in a heterologous expression system demonstrated partial loss of function for both G682V and the compound variant L1296M/E1308D. Our cases represent a novel association between SCN1A and SIDS, extending the SCN1A spectrum from epilepsy to SIDS. Our findings provide insights into SIDS and support genetic evaluation focused on epilepsy genes in SIDS.

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We compare antemortem whole-blood to postmortem peripheral blood concentrations of methamphetamine and its metabolite amphetamine in three medical examiner cases. Antemortem specimens, initially screened positive for methamphetamine by ELISA, were subsequently confirmed, together with the postmortem specimens, by GC-MS analysis following solid-phase extraction. Methamphetamine peripheral blood to antemortem blood ratios averaged 1.51 (± 0.049; n = 3) and amphetamine peripheral blood to antemortem blood ratios averaged 1.50 (n = 2). These data show that postmortem redistribution occurs for both methamphetamine and amphetamine, revealing that postmortem blood concentrations are ∼1.5 times greater than antemortem concentrations. Furthermore, as both methamphetamine and amphetamine have previously been shown to have liver/peripheral blood (L/P) ratios of 5-8, it can be proposed that drugs displaying L/P ratios ranging from 5 to 10 may exhibit postmortem concentrations up to twice those concentrations circulating in blood before death.

Since being introduced into clinical practice 20 years ago, fluoxetine, a serotonin-reuptake inhibitor, has remained one of the most popular antidepressants prescribed in the United States. Upon reviewing the literature, the highest reported postmortem central blood fluoxetine and norfluoxetine concentrations are 22 and 6.8 mg/L, respectively, and reported liver fluoxetine and norfluoxetine concentrations are 29-128 and 17 mg/kg, respectively. A 31-year-old female with convulsive activity was found at home by her husband. Emergency services was contacted, and responders found the patient unresponsive with agonal respirations, a pulse of 20 bpm, and no measurable blood pressure. Despite all resuscitative efforts, the patient expired. Postmortem analyses revealed concentrations of 33 mg/L fluoxetine and 12 mg/L norfluoxetine in central blood and 400 mg/kg fluoxetine and 460 mg/kg norfluoxetine in liver. Vitreous fluoxetine and norfluoxetine concentrations were 5.2 and 2.2 mg/L, respectively. Utilizing a sensitive and specific analytical procedure, we report the highest recorded central blood and liver fluoxetine and norfluoxetine concentrations.