List of works - Stephen G Waxman

A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity

scientific article

A SCN10A SNP biases human pain sensitivity

scientific article published on 02 September 2016

A case of inherited erythromelalgia

scientific article

A channelopathy contributes to cerebellar dysfunction in a model of multiple sclerosis.

scientific article published in February 2012

A new Nav1.7 mutation in an erythromelalgia patient ⬇️

scientific article published on January 30, 2013

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

scientific article published on 10 April 2010

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia

scientific article

A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels.

scientific article

A pore-blocking hydrophobic motif at the cytoplasmic aperture of the closed-state Nav1.7 channel is disrupted by the erythromelalgia-associated F1449V mutation.

scientific article

A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

scientific article

A sodium channel gene SCN9A polymorphism that increases nociceptor excitability

scientific article

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia

scientific article published on 16 May 2010

Annexin II/p11 is up-regulated in Purkinje cells in EAE and MS

scientific article (publication date: 24 March 2003)

Building sensory axons: Delivery and distribution of NaV1.7 channels and effects of inflammatory mediators

scientific article published on 23 October 2019

CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Na(v)1.8

scientific journal article

COL6A5 variants in familial neuropathic chronic itch.

scientific article published on 9 January 2017

Calmodulin regulates current density and frequency-dependent inhibition of sodium channel Nav1.8 in DRG neurons

scientific article

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

scientific article

Contactin associates with sodium channel Nav1.3 in native tissues and increases channel density at the cell surface

scientific article

Contactin regulates the current density and axonal expression of tetrodotoxin-resistant but not tetrodotoxin-sensitive sodium channels in DRG neurons

scientific journal article

Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy

scientific article published on 28 July 2015

Correlation of Nav1.8 and Nav1.9 sodium channel expression with neuropathic pain in human subjects with lingual nerve neuromas

scientific article

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

scientific article (publication date: 9 March 2012)

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

scientific journal article

Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.

scientific article published in July 2011

Dendritic Spine Dynamics after Peripheral Nerve Injury: An Intravital Structural Study

scientific article published on 04 May 2020

Differential modulation of sodium channel Na(v)1.6 by two members of the fibroblast growth factor homologous factor 2 subfamily

scientific article

Diverse functions and dynamic expression of neuronal sodium channels

scientific article published on January 1, 2002

Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H.

scientific article published on 8 January 2014

Dynamics of sodium channel Nav1.5 expression in astrocytes in mouse models of multiple sclerosis

scientific article

ERK1/2 mitogen-activated protein kinase phosphorylates sodium channel Na(v)1.7 and alters its gating properties

scientific article

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation

scientific article published on 15 April 2009

Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

scientific article

Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.

scientific article published on October 2009

Erythromelalgia: a hereditary pain syndrome enters the molecular era.

scientific article

FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels

scientific article

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

scientific article published on 8 August 2016

Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons

scientific article

From genes to pain: Na v 1.7 and human pain disorders

scientific article

Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.

scientific article published on 22 July 2012

Functional role of the C-terminus of voltage-gated sodium channel Na(v)1.8.

scientific article published on August 2004

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

scientific article (publication date: 22 June 2011)

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

scientific article

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy

scientific article published on 27 April 2014

Hominini-specific regulation of CBLN2 increases prefrontal spinogenesis

scientific article published on 01 October 2021

Human Na(v)1.8: enhanced persistent and ramp currents contribute to distinct firing properties of human DRG neurons

scientific article published on 18 March 2015

Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy

scientific article

Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b

scientific journal article

International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels

scientific article

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.

scientific article published on 2 December 2011

Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off.

scientific article

Modulation of thalamic nociceptive processing after spinal cord injury through remote activation of thalamic microglia by cysteine cysteine chemokine ligand 21

scientific article (publication date: 15 August 2007)

Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B

scientific article

Molecular changes in neurons in multiple sclerosis: altered axonal expression of Nav1.2 and Nav1.6 sodium channels and Na+/Ca2+ exchanger

scholarly article

Multiple sodium channels and their roles in electrogenesis within dorsal root ganglion neurons

scientific article published on 7 December 2006

Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade

scientific article

Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders

scientific article

Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.

scientific article

NaN/Nav1.9: a sodium channel with unique properties

scientific article (publication date: May 2002)

Nav1.7 is the predominant sodium channel in rodent olfactory sensory neurons

scientific article

Nav1.8 expression is not restricted to nociceptors in mouse peripheral nervous system

scientific article published on 15 June 2012

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

scientific article

Neurobiology: a channel sets the gain on pain

scientific article

Nonmuscle myosin II isoforms interact with sodium channel alpha subunits

scientific article published on 01 January 2018

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy

scientific article

Oral administration of PF-01247324, a subtype-selective Nav1.8 blocker, reverses cerebellar deficits in a mouse model of multiple sclerosis

scientific article published on 6 March 2015

PKCε phosphorylation of the sodium channel NaV1.8 increases channel function and produces mechanical hyperalgesia in mice.

scientific article

Painful neuropathies: the emerging role of sodium channelopathies

scientific article published on June 2014

Painful peripheral neuropathy and sodium channel mutations

scientific article published on 31 December 2014

Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable

scientific article published on 19 September 2008

Pharmacological characterisation of the highly NaV1.7 selective spider venom peptide Pn3a

scientific article

Phosphorylation of sodium channel Na(v)1.8 by p38 mitogen-activated protein kinase increases current density in dorsal root ganglion neurons

scientific article

Preferential targeting of Nav1.6 voltage-gated Na+ Channels to the axon initial segment during development

scientific article

Primary cortical motor neurons undergo apoptosis after axotomizing spinal cord injury

scientific article published in June 2003

Reduced thermal sensitivity and Nav1.8 and TRPV1 channel expression in sensory neurons of aged mice

scientific article

Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp

scientific article published on 20 November 2018

Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T.

scientific article published on 28 June 2017

Screening fluorescent voltage indicators with spontaneously spiking HEK cells

scientific article (publication date: 2013)

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating

scientific article

Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.

scientific article published on 26 January 2012

Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.

scientific article published in August 2013

Small-fibre neuropathies--advances in diagnosis, pathophysiology and management

scientific article

Sodium channel Nav1.7 in vascular myocytes, endothelium, and innervating axons in human skin

scientific article published on 9 May 2015

Sodium channel Nav1.8: Emerging links to human disease

scientific article

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

scientific article

Sodium channels in normal and pathological pain

scientific article published on January 2010

Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

scientific article

Status of peripheral sodium channel blockers for non-addictive pain treatment

scientific article published on 27 October 2020

Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.

scientific article published on January 2012

Structure of the sodium channel gene SCN11A: evidence for intron-to-exon conversion model and implications for gene evolution

scientific article

Subtype-Selective Small Molecule Inhibitors Reveal a Fundamental Role for Nav1.7 in Nociceptor Electrogenesis, Axonal Conduction and Presynaptic Release

scientific article

Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7

scientific article

The AMPK Activator A769662 Blocks Voltage-Gated Sodium Channels: Discovery of a Novel Pharmacophore with Potential Utility for Analgesic Development

scientific article

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

scientific article published on 20 March 2015

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

scientific article published on 04 September 2013

The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking

scientific article

The role of sodium channels in painful diabetic and idiopathic neuropathy.

scientific article published in October 2014

The roles of sodium channels in nociception: Implications for mechanisms of pain

scientific article

Transfection of rat or mouse neurons by biolistics or electroporation

scientific article published on 09 July 2009

Two Nedd4-binding motifs underlie modulation of sodium channel Nav1.6 by p38 MAPK.

scientific article

Upregulation of Sodium Channel Nav1.3 and Functional Involvement in Neuronal Hyperexcitability Associated with Central Neuropathic Pain after Spinal Cord Injury ⬇️

scientific article published on October 1, 2003

Voltage-gated sodium channel Nav 1.5 contributes to astrogliosis in an in vitro model of glial injury via reverse Na+ /Ca2+ exchange

scientific article

Voltage-gated sodium channel Nav1.6 is modulated by p38 mitogen-activated protein kinase.

scientific article

List of works by Stephen G Waxman

A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity

A SCN10A SNP biases human pain sensitivity

A case of inherited erythromelalgia

A channelopathy contributes to cerebellar dysfunction in a model of multiple sclerosis.

A new Nav1.7 mutation in an erythromelalgia patient ⬇️

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia

A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels.

A pore-blocking hydrophobic motif at the cytoplasmic aperture of the closed-state Nav1.7 channel is disrupted by the erythromelalgia-associated F1449V mutation.

A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

A sodium channel gene SCN9A polymorphism that increases nociceptor excitability

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia

Annexin II/p11 is up-regulated in Purkinje cells in EAE and MS

Building sensory axons: Delivery and distribution of NaV1.7 channels and effects of inflammatory mediators

CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Na(v)1.8

COL6A5 variants in familial neuropathic chronic itch.

Calmodulin regulates current density and frequency-dependent inhibition of sodium channel Nav1.8 in DRG neurons

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

Contactin associates with sodium channel Nav1.3 in native tissues and increases channel density at the cell surface

Contactin regulates the current density and axonal expression of tetrodotoxin-resistant but not tetrodotoxin-sensitive sodium channels in DRG neurons

Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy

Correlation of Nav1.8 and Nav1.9 sodium channel expression with neuropathic pain in human subjects with lingual nerve neuromas

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

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.

Dendritic Spine Dynamics after Peripheral Nerve Injury: An Intravital Structural Study

Differential modulation of sodium channel Na(v)1.6 by two members of the fibroblast growth factor homologous factor 2 subfamily

Diverse functions and dynamic expression of neuronal sodium channels

Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H.

Dynamics of sodium channel Nav1.5 expression in astrocytes in mouse models of multiple sclerosis

ERK1/2 mitogen-activated protein kinase phosphorylates sodium channel Na(v)1.7 and alters its gating properties

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation

Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.

Erythromelalgia: a hereditary pain syndrome enters the molecular era.

FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons

From genes to pain: Na v 1.7 and human pain disorders

Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.

Functional role of the C-terminus of voltage-gated sodium channel Na(v)1.8.

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

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

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy

Hominini-specific regulation of CBLN2 increases prefrontal spinogenesis

Human Na(v)1.8: enhanced persistent and ramp currents contribute to distinct firing properties of human DRG neurons

Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy

Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b

International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.

Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off.

Modulation of thalamic nociceptive processing after spinal cord injury through remote activation of thalamic microglia by cysteine cysteine chemokine ligand 21

Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B

Molecular changes in neurons in multiple sclerosis: altered axonal expression of Nav1.2 and Nav1.6 sodium channels and Na+/Ca2+ exchanger

Multiple sodium channels and their roles in electrogenesis within dorsal root ganglion neurons

Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade

Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders

Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.

NaN/Nav1.9: a sodium channel with unique properties

Nav1.7 is the predominant sodium channel in rodent olfactory sensory neurons

Nav1.8 expression is not restricted to nociceptors in mouse peripheral nervous system

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Neurobiology: a channel sets the gain on pain

Nonmuscle myosin II isoforms interact with sodium channel alpha subunits

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy

Oral administration of PF-01247324, a subtype-selective Nav1.8 blocker, reverses cerebellar deficits in a mouse model of multiple sclerosis

PKCε phosphorylation of the sodium channel NaV1.8 increases channel function and produces mechanical hyperalgesia in mice.

Painful neuropathies: the emerging role of sodium channelopathies

Painful peripheral neuropathy and sodium channel mutations

Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable

Pharmacological characterisation of the highly NaV1.7 selective spider venom peptide Pn3a

Phosphorylation of sodium channel Na(v)1.8 by p38 mitogen-activated protein kinase increases current density in dorsal root ganglion neurons

Preferential targeting of Nav1.6 voltage-gated Na+ Channels to the axon initial segment during development

Primary cortical motor neurons undergo apoptosis after axotomizing spinal cord injury

Reduced thermal sensitivity and Nav1.8 and TRPV1 channel expression in sensory neurons of aged mice

Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp

Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T.

Screening fluorescent voltage indicators with spontaneously spiking HEK cells

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating