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Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 2; peer review: 2 approved]

Cea, G; Andreu, D; Fletcher, E; Ramdas, S; Sud, R; Hanna, MG; Matthews, E; (2020) Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 2; peer review: 2 approved]. Wellcome Open Research , 5 , Article 57. 10.12688/wellcomeopenres.15798.2. Green open access

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Abstract

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 infants carrying the G1306E SCN4A mutation commonly associated with this presentation. We report 14 new cases of individuals with the G1306E mutation from three unrelated families and perform a literature review of all published cases. Infants with the G1306E mutation almost universally experience laryngospasm and apnoeic events. The severity varies significantly, spans both low and high-risk BRUE categories or can be more severe than criteria for a BRUE would allow. At least a third of cases require intensive care unit (ICU) care. Seizure disorder is a common erroneous diagnosis. Apnoeas are effectively reduced or abolished by appropriate treatment with anti-myotonic agents. Probands with the G1306E mutation who are family planning need to be counselled for the likelihood of post-natal complications. There is readily available and extremely effective treatment for the episodic laryngospasm and apnoea caused by this mutation. Proactively seeking clinical evidence of myotonia or muscle hypertrophy with consideration of CK,EMG and genetic testing in high risk BRUEs or more complex apnoeic events may reduce avoidable and prolonged ICU admissions, patient morbidity and potentially mortality.

Type: Article
Title: Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 2; peer review: 2 approved]
Open access status: An open access version is available from UCL Discovery
DOI: 10.12688/wellcomeopenres.15798.2
Publisher version: https://doi.org/10.12688/wellcomeopenres.15798.2
Language: English
Additional information: © 2020 Cea G et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/).
Keywords: Sodium channel, Muscle Disease, Myotonia, Laryngospasm, Stridor, Apnoea, Channelopathy, Paediatric
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10098551
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