Associated Papers
Pharmacogenetic pilot study of CYP2D6 and CYP1A2 genes in Italian patients with non-dystrophic myotonia and myotonic dystrophy treated with mexiletine.
Brugnoni R et al.
Gene, 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Congenital paramyotonia.
Cao CY et al.
Qjm : Monthly Journal of the Association of Physicians, 2024
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders.
Pedersen JJ et al.
Scientific Reports, 2023
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Asif M et al.
American Journal of Medical Genetics. Part A, 2022
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review.
Taminato T et al.
Journal of Neuromuscular Diseases, 2020
Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.
Meyer AP et al.
Frontiers in Neurology, 2020
In vivo assessment of muscle membrane properties in the sodium channel myotonias.
Tan SV et al.
Muscle & Nerve, 2018
Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.
Pajusalu S et al.
Clinical Genetics, 2018
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Matthews E et al.
The Journal of Pediatrics, 2017
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
Yang X et al.
Channels (austin, Tex.), 2017
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
Chung KW et al.
Journal of Clinical Neurology (seoul, Korea), 2016
Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.
Heidari MM et al.
Iranian Journal of Neurology, 2015
Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.
Xu C et al.
International Journal of Clinical and Experimental Pathology, 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.
Singh RR et al.
Pediatrics, 2014
Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.
Suetterlin K et al.
Current Opinion in Neurology, 2014
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Morrow JM et al.
Neuromuscular Disorders : Nmd, 2013
A quantitative measure of handgrip myotonia in non-dystrophic myotonia.
Statland JM 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
Voltage-gated sodium channels: biophysics, pharmacology, and related channelopathies.
Savio-Galimberti E et al.
Frontiers in Pharmacology, 2012
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
Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.
Bissay V et al.
Neuromuscular Disorders : Nmd, 2011
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
Tan SV et al.
Annals of Neurology, 2011
[Non-dystrophic myotonias. Diagnostic approach in a case related with a mutation in the sodium-channel gene].
Domínguez-González C et al.
Revista De Neurologia, 2010
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
Matthews E et al.
Brain : a Journal of Neurology, 2010
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Matthews E et al.
Neurology, 2008
A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.
Ferriby D et al.
Neuromuscular Disorders : Nmd, 2006
K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels.
Groome JR et al.
Cellular and Molecular Neurobiology, 2005
Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence.
Mohammadi B et al.
Pharmacogenetics and Genomics, 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
Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.
Takahashi MP et al.
The Journal of Physiology, 2001
Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.
Kim J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001
A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.
Wu FF et al.
Neurology, 2001
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses.
Cannon SC
Kidney International, 2000
Spectrum of inherited myotonias and periodic paralyses.
Al-Tahan AY
Saudi Medical Journal, 1999
Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita.
Fleischhauer R et al.
Pflugers Archiv : European Journal of Physiology, 1998
Familial cramp due to potassium-aggravated myotonia.
Orrell RW et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 1998
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
Effects of local anesthetics on Na+ channels containing the equine hyperkalemic periodic paralysis mutation.
Sah RL et al.
The American Journal of Physiology, 1998
The familial periodic paralyses and nondystrophic myotonias.
Ptácek L
The American Journal of Medicine, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant.
Richmond JE et al.
Biophysical Journal, 1997
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
Wagner S et al.
Neurology, 1997
Phenotype variation and newcomers in ion channel disorders.
Bulman DE
Human Molecular Genetics, 1997
The equine periodic paralysis Na+ channel mutation alters molecular transitions between the open and inactivated states.
Hanna WJ et al.
The Journal of Physiology, 1996
Hereditary dysfunction of voltage-gated sodium channels: from clinical phenotype to molecular mechanisms.
George AL
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 1996