Associated Papers
Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.
Nakajima T et al.
Channels (austin, Tex.), 2019
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
24136861 (PubMed )
Supplement: jmedgenet-2013-101917-s1.pdf
Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.
Nurputra DK et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Human skeletal muscle sodium channelopathies.
Vicart S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005
Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.
Dice MS et al.
Muscle & Nerve, 2004
A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
Kim DS et al.
Journal of Korean Medical Science, 2002
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.
Bendahhou S et al.
The Journal of Physiology, 1999
Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.
Bendahhou S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
Ranolazine block of human Na v 1.4 sodium channels and paramyotonia congenita mutants.
El-Bizri N et al.
Channels (austin, Tex.), 0
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