What is it about?
An infant with life-threatening events of sudden and severe apnea was found to have a genetic mutation causing increased excitability of neurons. After introducing the same mutation in mice, similar events of severe apnea occurred in these animals. The events were caused by a wave of increased excitability in the brainstem, that included the regions that drive the breathing rhythm. These waves of excitability could be prevented by drugs that block sodium currents in neurons (e.g. carbamazepine), thereby decreasing excitability and preventing severe apnea in both the animals as well as the infant.
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Why is it important?
Our findings provide a mechanism and treatment of sudden life-threatening apnea, which is known to occur in infants with other mutations in the same gene. This mechanism may additionally be of relevance in other cases of apnea which may occur in cases of sudden death, including Sudden Infant Death Syndrome (SIDS).
Perspectives
There has been limited progress in our understanding of the mechanisms of SIDS and other cases of sudden pediatric death. I believe this work, which could only come about by bringing together clinical and laboratory data from 3 research groups, provides an original and much-needed impulse to this area of research.
Nico Jansen
Universiteit Leiden
Read the Original
This page is a summary of: Brainstem depolarization–induced lethal apnea associated with gain-of-function
SCN1A
L263V
is prevented by sodium channel blockade, Proceedings of the National Academy of Sciences, March 2024, Proceedings of the National Academy of Sciences,
DOI: 10.1073/pnas.2309000121.
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