Myopathies in clinical care: a focus on treatable causes.

The importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report.

Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium.

Osimertinib-related myotoxicity: a disproportionality analysis of the FDA adverse event reporting system.

Alternative Splicing and CaV-Associated Channelopathies.

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.

Feasibility of 7 T 39 K/ 23 Na Magnetic Resonance Imaging for assessing muscular ion balance in hypokalemic periodic paralysis.

Disorders of Muscle Mass and Tone.

Periodic paralysis across the life course: age-related phenotype transition and sarcopenia overlap.

Advances in Muscle Research in Health and Disease.

No beneficial use of the wearable cardioverter defibrillator among patients suffering from inherited and congenital heart disease: data from a European multicenter registry.

Beneficial normalization of cardiac repolarization by carnitine in transgenic short QT syndrome type 1 rabbit models.

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

Autosomal Recessive Myotonia Congenita in an Adolescent Boy With Novel Mutation: A Case Report With Discussion on Management.

Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy.

Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children.

A retrospective study of accuracy and usefulness of electrophysiological exercise tests.

Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation.

Electrocardiogram Changes in the Postictal Phase of Epileptic Seizure: Results from a Prospective Study.

An evolutionarily conserved pacemaker role for HCN ion channels in smooth muscle.

Effects of Sports, Exercise Training, and Physical Activity in Children with Congenital Heart Disease-A Review of the Published Evidence.

Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders.

CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies.

BKCa Activator NS1619 Improves the Structure and Function of Skeletal Muscle Mitochondria in Duchenne Dystrophy.

TRPV4 acts as a mitochondrial Ca2+-importer and regulates mitochondrial temperature and metabolism.

Prevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory.

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders.

Persistent hypokalaemia and intermittent muscle weakness.

The Voltage-Gated Calcium Channel EGL-19 Acts on Glia to Drive Olfactory Adaptation.

Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.

Hypokalemic Periodic Paralysis: An Atypical Presentation of Non-autoimmune Hypothyroidism With Distal Renal Tubular Acidosis.

A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?

Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.

What Is in the Myopathy Literature?

Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.

Cannabidiol and Sodium Channel Pharmacology: General Overview, Mechanism, and Clinical Implications.

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.

Andersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes.

Toxin-Induced Channelopathies, Neuromuscular Junction Disorders, and Myopathy.

Andersen-Tawil Syndrome: A Comprehensive Review.

Neuromuscular disorders in pregnancy.

Hyperkalemic periodic paralysis aggravated by voltage - gate sodium channel blocker antiepileptic drug?

Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches.

Central Role of Subthreshold Currents in Myotonia.

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel.

Clinical electrophysiology of muscle diseases and episodic muscle disorders.

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.

Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.

Open-label trial of ranolazine for the treatment of paramyotonia congenita.

Whole-body MRI and pathological findings in adult patients with myopathies.

CRAC channels in dental enamel cells.

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.

A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels.

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

Dual Action of Mexiletine and Its Pyrroline Derivatives as Skeletal Muscle Sodium Channel Blockers and Anti-oxidant Compounds: Toward Novel Therapeutic Potential.

History and current difficulties in classifying inherited myopathies and muscular dystrophies.

Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome.

Sodium Channelopathies of Skeletal Muscle.

Sepsis-Induced Channelopathy in Skeletal Muscles is Associated with Expression of Non-Selective Channels.

Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia.

Eplerenone repolarizes muscle membrane through Na,K-ATPase activation by Tyr10 dephosphorylation.

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis.

The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.

Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition.

[Indications for implantable loop recorders in patients with channelopathies and ventricular tachycardias].

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Myotonic Disorders and Channelopathies.

Diseases caused by mutations in ORAI1 and STIM1.

Skeletal muscle sodium channelopathies.

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.

Channelopathies of skeletal muscle excitability.

The investigation and management of metabolic myopathies.

Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.

Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.