Disease: Nondystrophic 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<sup>Arg</sup> 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<sub>v</sub>1.4 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 Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
- 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<sub>v</sub>1.4 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
- 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
- Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita
- 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<sub>v</sub>1.4 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<sub>V</sub>1.4 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