Associated Papers
Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita.
Lee MJ et al.
Biology, 2022
Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing.
Tan X et al.
The Journal of International Medical Research, 2020
Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family.
Liu Y et al.
European Neurology, 2019
Loss of human ICOSL results in combined immunodeficiency.
Roussel L et al.
The Journal of Experimental Medicine, 2018
Does thyrotoxic periodic paralysis have a genetic predisposition? A case report.
Rasheed E et al.
Annals of Clinical Biochemistry, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V.
Fu C et al.
Frontiers in Neurology, 2018
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Hammer MF et al.
Plos One, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
Bissay V et al.
European Journal of Human Genetics : Ejhg, 2016
[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
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
[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
Correlating phenotype and genotype in the periodic paralyses.
Miller TM et al.
Neurology, 2004
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
Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.
Green DS et al.
The Journal of Physiology, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Current Opinion in Neurology, 1995