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

Apnoea Channelopathy Laryngospasm Muscle Disease Myotonia Paediatric Sodium channel Stridor

Journal

Wellcome open research
ISSN: 2398-502X
Titre abrégé: Wellcome Open Res
Pays: England
ID NLM: 101696457

Informations de publication

Date de publication:
2020
Historique:
accepted: 01 05 2020
entrez: 10 6 2020
pubmed: 10 6 2020
medline: 10 6 2020
Statut: epublish

Résumé

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

Identifiants

pubmed: 32509969
doi: 10.12688/wellcomeopenres.15798.2
pmc: PMC7241273
doi:

Types de publication

Case Reports

Langues

eng

Pagination

57

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 209583/Z/17/Z
Pays : United Kingdom

Informations de copyright

Copyright: © 2020 Cea G et al.

Déclaration de conflit d'intérêts

No competing interests were disclosed.

Références

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Auteurs

Gabriel Cea (G)

Departamento de Ciencias Neurológicas, Universidad de Chile, Santiago, Chile.
Servicio de Neurología, Hospital Salvador, Santiago, Chile.

Daniel Andreu (D)

Departamento de Ciencias Neurológicas, Universidad de Chile, Santiago, Chile.

Elaine Fletcher (E)

Department of Clinical Genetics, Centre for Genomic and Experimental Medicine, Western General Hospital, Edinburgh, EH5 2GL, UK.

Sithara Ramdas (S)

Department of Paediatric Neurology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK.

Richa Sud (R)

Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK.

Michael G Hanna (MG)

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Emma Matthews (E)

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Classifications MeSH