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

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 t...

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Detalles Bibliográficos
Autores principales: Cea, Gabriel, Andreu, Daniel, Fletcher, Elaine, Ramdas, Sithara, Sud, Richa, Hanna, Michael G., Matthews, Emma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2020
Materias:
Clinical Practice Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241273/
https://www.ncbi.nlm.nih.gov/pubmed/32509969
http://dx.doi.org/10.12688/wellcomeopenres.15798.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241273/
https://www.ncbi.nlm.nih.gov/pubmed/32509969
http://dx.doi.org/10.12688/wellcomeopenres.15798.2

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