SCN4A

En médecine

Notes et références

1. ↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000007314 - Ensembl, May 2017
2. ↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000001027 - Ensembl, May 2017
3. ↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
4. ↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
5. ↑ Cannon SC, Channelopathies of skeletal muscle excitability, Compr Physiol, 2015;5:761–790
6. ↑ Gay S, Dupuis D, Faivre L et al. Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene, Am J Med Genet A, 2008;146:380–383
7. ↑ Lion-Francois L, Mignot C, Vicart S et al. Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder, Neurology, 2010;75:641–645
8. ↑ Tsujino A, Maertens C, Ohno K et al. Myasthenic syndrome caused by mutation of the SCN4A sodium channel, Proc Natl Acad Sci USA, 2003;100:7377–7382
9. ↑ Zaharieva IT, Thor MG, Oates EC et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy, Brain, 2016;139:674–691
10. ↑ Männikkö R, Wong L, Tester DJ et al. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study, Lancet, 2018;391:1483–1492