Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses-Reference-Cited by-同舟云学术

Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

Published:2018-02-01 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Poulin Hugo,Gosselin-Badaroudine Pascal,Vicart Savine,Habbout Karima,Sternberg Damien,Giuliano Serena,Fontaine Bertrand,Bendahhou Saïd,Nicole Sophie,Chahine Mohamed^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-20468-0.pdf

Reference44 articles.

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3. Zaharieva, I. T. et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy. Brain 139, 674–91 (2016).

4. Habbout, K. et al. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. Neurology 86, 161–169 (2016).

5. Arnold, W. D. et al. Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome. Ann. Neurol. 77, 840–50 (2015).

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