Associated Papers
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.
Kokunai Y et al.
Scientific Reports, 2018
Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.
Poulin H et al.
Scientific Reports, 2018
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
Wu L et al.
Cellular and Molecular Neurobiology, 2014
[Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis].
Wei CJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
Normokalemic periodic paralysis is not a distinct disease.
Song YW et al.
Muscle & Nerve, 2012
Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.
Zhao J et al.
The Journal of Physiology, 2012
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
[Sodium channel alpha-1-subunit gene mutations and epilepsy].
Wang JW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.
Xiuhai G et al.
Cellular and Molecular Neurobiology, 2008
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.
Jurkat-Rott K et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
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
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
Vicart S et al.
Neurology, 2004
[The mutation V781I in SCN4A gene exists in Chinese patients with normokalemic periodic paralysis].
Guo XH et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.
Bendahhou S et al.
Neurology, 2002
Molecular diversity of structure and function of the voltage-gated Na+ channels.
Ogata N et al.
Japanese Journal of Pharmacology, 2002
A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.
Wu FF et al.
Neurology, 2001
Effect of the antimalarial drug halofantrine in the long QT syndrome due to a mutation of the cardiac sodium channel gene SCN5A.
Piippo K et al.
The American Journal of Cardiology, 2001
Slow inactivation in voltage-gated sodium channels: molecular substrates and contributions to channelopathies.
Vilin YY et al.
Cell Biochemistry and Biophysics, 2001
The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.
Struyk AF et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2000
A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.
Bendahhou S et al.
The Journal of Clinical Investigation, 2000
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