• "Status myotonicus" in Na_v1.4-M1592V channelopathy
• A case of potassium-sensitive periodic paralysis with cardiac dysrhythmia
• A girl with hereditary myotonia due to an exceptional sodium channel mutation
• A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification
• A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg
• A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA
• A novel SCN4A mutation causing myotonia aggravated by cold and potassium
• A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism
• A SCN4A mutation causing paramyotonia congenita
• A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant
• A zebrafish model of nondystrophic myotonia with sodium channelopathy
• Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation
• Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome
• An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease
• Anesthetic management of a patient with sodium-channel myotonia: a case report
• Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians
• 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
• De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure
• Defective slow inactivation of sodium channels contributes to familial periodic paralysis
• Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel
• Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block
• Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy
• Electromyography guides toward subgroups of mutations in muscle channelopathies
• Familial cramp due to potassium-aggravated myotonia
• Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review
• From mutation to myotonia in sodium channel disorders
• Gating of myotonic Na channel mutants defines the response to mexiletine and a potent derivative
• Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis
• Guidelines on clinical presentation and management of nondystrophic myotonias
• Herculean Boy With Facial Myokymia
• Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia
• Hyperkalemic Periodic Paralysis
• Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters
• Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5
• In vivo assessment of muscle membrane properties in the sodium channel myotonias
• Inactivation defects produced by a myopathic II-S6 mutation of the muscle sodium channel
• Inherited ion channel disorders
• Ion channel diseases in neurology
• K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels
• K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation
• Lack of sodium channel mutation in an Italian family with paramyotonia congenita
• Mexiletine block of wild-type and inactivation-deficient human skeletal muscle hNav1.4 Na+ channels
• Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies
• Muscle channelopathies and electrophysiological approach
• Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness
• Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes
• Myopathic mutations affect differently the inactivation of the two gating modes of sodium channels
• Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life
• New mutation of the Na channel in the severe form of potassium-aggravated myotonia
• New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene
• Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation
• Paramyotonia congenita without cold paralysis: a case report
• Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene
• Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995
• Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation
• Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis
• Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing
• SAR inspired by aldehyde oxidase (AO) metabolism: Discovery of novel, CNS penetrant tricyclic M₄ PAMs
• Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene
• The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology
• The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation
• The nondystrophic myotonias
• Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation
• Two cases of potassium-aggravated myotonia induced by SCN4A gene variation
• What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed