Structure-based assessment of disease-related mutations in human voltage-gated sodium channels

Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli

(2016) Y. Yang et al.   JOURNAL OF NEUROSCIENCE

Structure of the voltage-gated calcium channel Cav1.1 at 3.6 Å resolution

(2016) Jianping Wu et al.   NATURE

SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing

(2016) Andreas M. Kist et al.   PLoS One

p.L1612P, a Novel Voltage-gated Sodium Channel Nav1.7 Mutation Inducing a Cold Sensitive Paroxysmal Extreme Pain Disorder

(2015) Marc R. Suter et al.   ANESTHESIOLOGY

Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

(2015) W. David Arnold et al.   ANNALS OF NEUROLOGY

Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy

(2015) Irina T. Zaharieva et al.   BRAIN

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology

(2015) Christiaan C. Veerman et al.   GENE

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

(2015) Maxime G Blanchard et al.   JOURNAL OF MEDICAL GENETICS

The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy

(2015) Chongyang Han et al.   NEUROMOLECULAR MEDICINE

Structure of the voltage-gated calcium channel Cav1.1 complex

(2015) J. Wu et al.   SCIENCE

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

(2015) Enrico Leipold et al.   Nature Communications

Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy

(2014) Jianying Huang et al.   BRAIN

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

(2014) Silvia Corrochano et al.   BRAIN

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

(2014) James R. Groome et al.   BRAIN

Gain-of-Function Mutation of the SCN5A Gene Causes Exercise-Induced Polymorphic Ventricular Arrhythmias

(2014) H. Swan et al.   Circulation-Cardiovascular Genetics

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

(2014) Carolien G.F. de Kovel et al.   EPILEPSY RESEARCH

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

(2014) Mark Estacion et al.   NEUROBIOLOGY OF DISEASE

Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain

(2013) Xiang Yang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

AnSCN2Amutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+current

(2013) Stephan Lauxmann et al.   EPILEPSIA

Structure and function of voltage-gated sodium channels at atomic resolution

(2013) William A. Catterall   EXPERIMENTAL PHYSIOLOGY

The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability

(2013) C. Han et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Small-Fiber Neuropathy Nav1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons

(2013) J. Huang et al.   JOURNAL OF NEUROSCIENCE

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

(2013) Enrico Leipold et al.   NATURE GENETICS

Novel SCN3A variants associated with focal epilepsy in children

(2013) Carlos G. Vanoye et al.   NEUROBIOLOGY OF DISEASE

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Voltage-gated sodium channels at 60: structure, function and pathophysiology

(2012) William A. Catterall   JOURNAL OF PHYSIOLOGY-LONDON

Multifocal Ectopic Purkinje-Related Premature Contractions

(2012) Gabriel Laurent et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

China must provide education on HIV

(2012) Jian Zhang et al.   NATURE

The NaV1.7 sodium channel: from molecule to man

(2012) Sulayman D. Dib-Hajj et al.   NATURE REVIEWS NEUROSCIENCE

Cardiac Sodium Channel Nav1.5 Mutations and Cardiac Arrhythmia

(2012) Weihua Song et al.   PEDIATRIC CARDIOLOGY

Gain-of-function Nav1.8 mutations in painful neuropathy

(2012) C. G. Faber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Nav1.7 mutant channel

(2012) Yang Yang et al.   Nature Communications

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

(2011) Catharina G. Faber et al.   ANNALS OF NEUROLOGY

Clinical spectrum of SCN2A mutations

(2011) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

Mechanism of Ion Permeation and Selectivity in a Voltage Gated Sodium Channel

(2011) Ben Corry et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

The crystal structure of a voltage-gated sodium channel

(2011) Jian Payandeh et al.   NATURE

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

(2010) Yunxiang Liao et al.   BRAIN

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

(2010) Andrew Escayg et al.   EPILEPSIA

A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons

(2010) Mark Estacion et al.   EXPERIMENTAL NEUROLOGY

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons

(2010) Jin-Sung Choi et al.   Nature Reviews Neurology

Sodium channelopathies and pain

(2010) Angelika Lampert et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Mexiletine-responsive erythromelalgia due to a new Nav1.7 mutation showing use-dependent current fall-off

(2009) Jin-Sung Choi et al.   EXPERIMENTAL NEUROLOGY

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures

(2008) Sunita N. Misra et al.   EPILEPSIA

NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders

(2008) M. Estacion et al.   JOURNAL OF NEUROSCIENCE

Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation

(2008) Brian W. Jarecki et al.   JOURNAL OF PHYSIOLOGY-LONDON

A Novel SCN5A Gain-of-Function Mutation M1875T Associated With Familial Atrial Fibrillation

(2008) Takeru Makiyama et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY