August 9, 2021

Sudden death from deep in the brain?

Vanderbilt neurologists found altered excitability in deep brain structures that they note may drive respiratory dysfunction and sudden death in a rare form of epilepsy.

Risk of sudden unexpected death in epilepsy (SUDEP) is among comorbidities present in Dravet Syndrome (DS), a rare, catastrophic form of epilepsy in which seizures begin in infancy, with most cases due to mutations in a single gene, SCN1A 

Breathing issues have been reported in patients and in mouse models of DS, and a recent study implicated respiratory decline in SUDEP in DS mice. 

In the journal eNeuroWilliam Nobis, MD, PhD, Wen Wei Yan, MD, Maya Xia and colleagues report experiments in DS mice showing altered excitability in a complex of neurons deep in the brain, the bed nucleus of the stria terminalis (BNST), and significant under-excitability of neurons projecting from the BNST to the parabrachial nucleus, which is located atop the brainstem and is involved in respiration. Noting that this circuit might be driving respiratory dysfunction and sudden death in DS, the authors call for further study of the role of deep brain structures in epilepsy models.

Also on the study from Vanderbilt University Medical Center were Jeremy Chiang, Alyssa Levitt and Dane Chetkovich, MD, PhD. They were joined by researchers from Northwestern University. This work was supported by the American Epilepsy Society, NINDS Center for SUDEP Research, and Vanderbilt Faculty Research Scholars award.