Associated Papers
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.
Periviita V et al.
European Journal of Neurology, 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review.
Han JY et al.
Heliyon, 2024
A retrospective study of accuracy and usefulness of electrophysiological exercise tests.
Periviita V et al.
Journal of Neurology, 2024
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.
Periviita V et al.
Neurology, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.
Franklin JP et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Maggi L et al.
Frontiers in Neurology, 2020
Possible role of SCN4A skeletal muscle mutation in apnea during seizure.
Türkdoğan D et al.
Epilepsia Open, 2019
Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey.
Suokas K et al.
Muscle & Nerve, 2018
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis.
Xu YQ et al.
Chinese Medical Journal, 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
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene.
Palmio J et al.
Neurology, 2017
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
Chung KW et al.
Journal of Clinical Neurology (seoul, Korea), 2016
Genotype phenotype associations across the voltage-gated sodium channel family.
Brunklaus A et al.
Journal of Medical Genetics, 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
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.
Raheem O et al.
Neurology, 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
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.
Lee SC et al.
Journal of Clinical Neurology (seoul, Korea), 2009
[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
Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.
Hsu WC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006
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
A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.
Bouhours M et al.
The Journal of Physiology, 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
Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis.
Sugiura Y et al.
Neurology, 2003
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.
Brancati F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2003
Molecular diversity of structure and function of the voltage-gated Na+ channels.
Ogata N et al.
Japanese Journal of Pharmacology, 2002
Ion channels in muscle and cardiac hereditary diseases: from gene dysfunction to pharmacological therapy. 10-11 March 2000, Bari, Italy.
Desaphy JF et al.
Neuromuscular Disorders : Nmd, 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 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
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
Sugiura Y et al.
Neurology, 2000
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
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
The familial periodic paralyses and nondystrophic myotonias.
Ptácek L
The American Journal of Medicine, 1998
Inactivation and secondary structure in the D4/S4-5 region of the SkM1 sodium channel.
Filatov GN et al.
The Journal of General Physiology, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 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
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