• A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia
• A case of paramyotonia congenita in pregnancy
• A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link?
• A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita
• A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs
• A novel heteroplasmic mutation in mitochondrial tRNA^Arg gene associated with non-dystrophic myotonias
• A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
• A quantitative measure of handgrip myotonia in non-dystrophic myotonia
• A retrospective study of accuracy and usefulness of electrophysiological exercise tests
• A review of the use of mexiletine in patients with myotonic dystrophy and non-dystrophic myotonia
• A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients
• A SCN4A mutation causing paramyotonia congenita
• A zebrafish model of nondystrophic myotonia with sodium channelopathy
• An interactive voice response diary for patients with non-dystrophic myotonia
• An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
• Anesthetic management of a patient with sodium-channel myotonia: a case report
• Beyond the muscular involvement in non-dystrophic myotonias: The emerging role of neuromodulation
• Blockers of Skeletal Muscle Na_v1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back
• Buprenorphine may be effective for treatment of paramyotonia congenita
• Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis
• Chloride Channel Mutations Leading to Congenital Myotonia
• Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children
• Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia
• Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report
• Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia
• Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report
• Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia
• Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study
• Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis
• Cost-Based Price Calculation of Mexiletine for Nondystrophic Myotonia
• Drug repurposing in skeletal muscle ion channelopathies
• Dystrophic and non-dystrophic myotonias
• EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation
• Effect of Focal Traumatic Injury in Nondystrophic Myotonic Disorders
• Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials
• Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study
• Episodic Muscle Disorders
• European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders
• First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features
• Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature
• Functional and Structural Characterization of ClC-1 and Na_v1.4 Channels Resulting from <em>CLCN1</em> and <em>SCN4A</em> Mutations Identified Alone and Coexisting in Myotonic Patients
• Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle
• Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
• Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders
• Guidelines on clinical presentation and management of nondystrophic myotonias
• Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene
• Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia
• Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
• Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European survey
• Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel
• Inherited myotonias
• Long-term Safety and Efficacy of Mexiletine in Myotonic Dystrophy Types 1 and 2
• Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias
• Managing pregnancy and anaesthetics in patients with skeletal muscle channelopathies
• Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial
• Mexiletine for treatment of myotonia: a trial triumph for rare disease networks
• Multiple sclerosis and non-dystrophic myotonias: do they share a common pathophysiology?
• Muscle channelopathies
• Muscle Channelopathies
• Muscle channelopathies: the nondystrophic myotonias and periodic paralyses
• Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia
• Mutation spectrum and health status in skeletal muscle channelopathies in Japan
• Myotonia
• Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients
• New Challenges Resulting From the Loss of Function of Na_v1.4 in Neuromuscular Diseases
• New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics
• Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients
• Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant
• Non-dystrophic myotonia: 2-year clinical and patient reported outcomes
• Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients
• Nondystrophic myotonia: challenges and future directions
• Open-label trial of ranolazine for the treatment of paramyotonia congenita
• Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
• Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families
• Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review
• Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report
• Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands
• Prevalence study of genetically defined skeletal muscle channelopathies in England
• Safinamide in neurological disorders and beyond: Evidence from preclinical and clinical studies
• Safinamide's potential in treating nondystrophic myotonias: Inhibition of skeletal muscle voltage-gated sodium channels and skeletal muscle hyperexcitability in vitro and in vivo
• Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people
• Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature
• Skeletal Muscle Channelopathies
• Skeletal Muscle Channelopathies
• Skeletal muscle channelopathies: a guide to diagnosis and management
• Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease
• Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children
• Substitutions of the S4DIV R2 residue (R1451) in Na_V1.4 lead to complex forms of paramyotonia congenita and periodic paralyses
• Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine
• The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study
• The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia
• The course and outcome of pregnancy in women with nondystrophic myotonias
• The Dystrophic and Nondystrophic Myotonias
• The roles of mitochondrial tRNA mutations in non-dystrophic myotonias
• The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias
• Treatment of SCN4A-induced myotonic crisis
• Treatment Updates for Neuromuscular Channelopathies
• Unintended effects of orphan product designation for rare neurological diseases
• What is in the Myopathy Literature?
• What the internist should know about hereditary muscle channelopathies