Possible role of SCN4A skeletal muscle mutation in apnea during seizure

SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea. We have recently identified similar SCN4A mutations in association with sudden infant death syn...

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Detalles Bibliográficos
Autores principales: Türkdoğan, Dilşad, Matthews, Emma, Usluer, Sunay, Gündoğdu, Aslı, Uluç, Kayıhan, Mannikko, Roope, Hanna, Michael G., Sisodiya, Sanjay M., Çağlayan, Hande S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Short Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698682/
https://www.ncbi.nlm.nih.gov/pubmed/31440732
http://dx.doi.org/10.1002/epi4.12347

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698682/
https://www.ncbi.nlm.nih.gov/pubmed/31440732
http://dx.doi.org/10.1002/epi4.12347

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