Associated Papers
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita.
Lee MJ et al.
Biology, 2022
Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.
Huang CW et al.
Biomedicines, 2021
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype.
Bednarz M et al.
Neuromuscular Disorders : Nmd, 2017
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.
Arnold WD et al.
Annals of Neurology, 2015
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.
Charles G et al.
Journal of Neurology, 2013
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
Lehmann-Horn F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2011
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.
Park JH et al.
The Neurologist, 2010
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E et al.
Neurology, 2009
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Matthews E et al.
Neurology, 2008
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
Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.
Kinoshita M et al.
Internal Medicine (tokyo, Japan), 2003
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
The skeletal muscle channelopathies: basic science, clinical genetics and treatment.
Davies NP et al.
Current Opinion in Neurology, 2001
A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.
Wu FF et al.
Neurology, 2001
Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.
Davies NP et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2000
A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
Sasaki R et al.
Archives of Neurology, 1999
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0