Sodium channel protein type 4 subunit alpha

[1]. W David Arnold, et al. Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. Ann Neurol. 2015 May;77(5):840-50. [Content Brief]

[2]. Xiaojing Pan, et al. Structure of the human voltage-gated sodium channel Nav1.4 in complex with β1. Science. 2018 Oct 19;362(6412):eaau2486. [Content Brief]

[3]. Tomoya Kubota, et al. New mutation of the Na channel in the severe form of potassium-aggravated myotonia. Muscle Nerve. 2009 May;39(5):666-73. [Content Brief]

[4]. Margaret S Dice, et al. Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. Muscle Nerve. 2004 Sep;30(3):277-88. [Content Brief]

[5]. Akira Tsujino, et al. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. [Content Brief]

[6]. Jadon Webb, et al. Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia. Neurology. 2008 Mar 4;70(10):755-61. [Content Brief]

[7]. Karima Habbout, et al. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. Neurology. 2016 Jan 12;86(2):161-9. [Content Brief]

[8]. Thomas Carle, et al. Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. Biochem Biophys Res Commun. 2006 Sep 22;348(2):653-61. [Content Brief]

[9]. Irina T Zaharieva, et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain. 2016 Mar;139(Pt 3):674-91. [Content Brief]

[10]. James R Groome, et al. Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating. Channels (Austin). 2008 Jan-Feb;2(1):39-50. [Content Brief]

[11]. Debora Baroni, et al. A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel. Hum Mutat. 2018 Oct;39(10):1402-1415. [Content Brief]