Inherited disorders of voltage-gated sodium channels

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Currents carried by sodium and potassium ions through the membrane of the giant axon of Loligo

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From Ionic Currents to Molecular Mechanisms

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Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

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Genotype-Phenotype Correlation in the Long-QT Syndrome: Gene-Specific Triggers for Life-Threatening Arrhythmias

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SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

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De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

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Structural parts involved in activation and inactivation of the sodium channel

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Cellular Basis for the Brugada Syndrome and Other Mechanisms of Arrhythmogenesis Associated With ST-Segment Elevation

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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

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Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

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Molecular mechanism for an inherited cardiac arrhythmia

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Cellular and molecular biology of voltage-gated sodium channels

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Long QT Syndrome Patients With Mutations of the SCN5A and HERG Genes Have Differential Responses to Na + Channel Blockade and to Increases in Heart Rate

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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

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Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

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Sodium Channel Blockers Identify Risk for Sudden Death in Patients With ST-Segment Elevation and Right Bundle Branch Block but Structurally Normal Hearts

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First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

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The long QT syndrome

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A Single Na + Channel Mutation Causing Both Long-QT and Brugada Syndromes

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Cardiac conduction defects associate with mutations in SCN5A

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Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.

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Molecular Basis of Charge Movement in Voltage-Gated Sodium Channels

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Ionic Mechanisms Responsible for the Electrocardiographic Phenotype of the Brugada Syndrome Are Temperature Dependent

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Association of Long QT Syndrome Loci and Cardiac Events Among Patients Treated With β-Blockers

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Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

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Primary structure and functional expression of a mammalian skeletal muscle sodium channel

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Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation

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Arrhythmogenic Marker for the Sudden Unexplained Death Syndrome in Thai Men

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Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia

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A Prokaryotic Voltage-Gated Sodium Channel

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Efficacy of Quinidine in High-Risk Patients With Brugada Syndrome

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SCN5A Mutation Associated With Dilated Cardiomyopathy, Conduction Disorder, and Arrhythmia

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Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia

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Postmortem Molecular Analysis of SCN5A Defects in Sudden Infant Death Syndrome

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Electrophysiological Properties of Mutant Na v 1.7 Sodium Channels in a Painful Inherited Neuropathy

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A sodium-channel mutation causes isolated cardiac conduction disease

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Molecular cloning of a putative tetrodotoxin-resistant rat heart Na+ channel isoform.

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Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis

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Sodium-channel defects in benign familial neonatal-infantile seizures

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A missense mutation of the Na + channel α II subunit gene Na v 1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

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Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome

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NovelSCN5AMutation Leading Either to Isolated Cardiac Conduction Defect or Brugada Syndrome in a Large French Family

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Molecular Basis of an Inherited Epilepsy

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A Molecular Link between the Sudden Infant Death Syndrome and the Long-QT Syndrome

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Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia

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Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

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Multiple Mechanisms of Na + Channel– Linked Long-QT Syndrome

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Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

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On the repetitive discharge in myotonic muscle fibres

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A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis

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Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene

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An unexpected role for brain-type sodium channels in coupling of cell surface depolarization to contraction in the heart

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Na+ channels must deactivate to recover from inactivation

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Na + Channel Mutation That Causes Both Brugada and Long-QT Syndrome Phenotypes

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Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy

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A Cardiac Sodium Channel Mutation Cosegregates With a Rare Connexin40 Genotype in Familial Atrial Standstill

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Characterization of human cardiac Na + channel mutations in the congenital long QT syndrome

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The Elusive Link Between LQT3 and Brugada Syndrome

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Correlating phenotype and genotype in the periodic paralyses

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Mice Lacking Sodium Channel β1 Subunits Display Defects in Neuronal Excitability, Sodium Channel Expression, and Nodal Architecture

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Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome

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Membrane changes in cells from myotonia patients.

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Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

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Further Characterization of the Syndrome of Right Bundle Branch Block, ST Segment Elevation, and Sudden Cardiac Death

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Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System

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Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

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Functional expression of sodium channel mutations identified in families with periodic paralysis

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Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease

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Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

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Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation

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A sodium channel defect in hyperkalemic periodic paralysis: Potassium-induced failure of inactivation

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Epilepsy-Associated Dysfunction in the Voltage-Gated Neuronal Sodium Channel SCN1A

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Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

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Clinical, Genetic, and Biophysical Characterization of SCN5A Mutations Associated With Atrioventricular Conduction Block

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Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III‐IV linker.

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Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

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Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome

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An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node

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Ion channels as targets for treatment of gastrointestinal motility disorders.

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