Article

Sodium channel myotonia may be associated with high-risk brief resolved unexplained events

2020-05-12

Abstract excerpt

Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to mutations in the SCN4A gene, experience apnoeic events due to laryngospasm (myotonia) of the upper airway muscles that may present as a BRUE. We sought to ascertain the frequency, severity and outcome of in...

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Literature Corpus work: 9c55d4b0-0d5b-56ce-b4d1-2aa3d8b1d523
DOI: 10.12688/wellcomeopenres.15798.2

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