(Q36771264)

16 August 2017

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title

Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype (English)

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16 August 2017

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Stephen G Waxman

1

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PubMed ID

17387329

16 August 2017

language of work or name

English

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publication date

1 April 2007

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16 August 2017

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16 August 2017

10

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16 August 2017

4

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16 August 2017

405-409

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https://scigraph.springernature.com/pub.10.1038/nn1857

16 August 2017

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cites work

Pathomechanisms in channelopathies of skeletal muscle and brain

1 reference

A quantitative description of membrane current and its application to conduction and excitation in nerve

21 January 2018

1 reference

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

21 January 2018

1 reference

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.

21 January 2018

1 reference

Molecular basis of an inherited epilepsy

21 January 2018

1 reference

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

21 January 2018

1 reference

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

21 January 2018

1 reference

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

21 January 2018

1 reference

Sodium channel mutations in epilepsy and other neurological disorders

21 January 2018

1 reference

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability

21 January 2018

1 reference

Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.

21 January 2018

1 reference

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

21 January 2018

1 reference

Erythermalgia: molecular basis for an inherited pain syndrome

21 January 2018

1 reference

Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons

21 January 2018

1 reference

Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain

21 January 2018

1 reference

An SCN9A channelopathy causes congenital inability to experience pain

21 January 2018

1 reference

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

21 January 2018

1 reference

Erythromelalgia: vasculopathy, neuropathy, or both? A prospective study of vascular and neurophysiologic studies in erythromelalgia

21 January 2018

1 reference

Impaired neurogenic control of skin perfusion in erythromelalgia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A tetrodotoxin-resistant voltage-gated sodium channel expressed by sensory neurons

21 January 2018

1 reference

Structure and function of a novel voltage-gated, tetrodotoxin-resistant sodium channel specific to sensory neurons.

21 January 2018

1 reference

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

21 January 2018

1 reference

Open-channel block by the cytoplasmic tail of sodium channel beta4 as a mechanism for resurgent sodium current

21 January 2018

1 reference

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

21 January 2018

1 reference

The TTX-resistant sodium channel Nav1.8 (SNS/PN3): expression and correlation with membrane properties in rat nociceptive primary afferent neurons.

21 January 2018

1 reference

A comparison of the potential role of the tetrodotoxin-insensitive sodium channels, PN3/SNS and NaN/SNS2, in rat models of chronic pain

21 January 2018

1 reference

Changes in the expression of tetrodotoxin-sensitive sodium channels within dorsal root ganglia neurons in inflammatory pain

21 January 2018

1 reference

Sensory neuron-specific sodium channel SNS is abnormally expressed in the brains of mice with experimental allergic encephalomyelitis and humans with multiple sclerosis

21 January 2018

1 reference

Upregulation and colocalization of p75 and Nav1.8 in Purkinje neurons in experimental autoimmune encephalomyelitis.

21 January 2018

1 reference

Expression of Nav1.8 sodium channels perturbs the firing patterns of cerebellar Purkinje cells.

21 January 2018

1 reference

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

21 January 2018

1 reference

Inherited Channelopathies Associated with Epilepsy

21 January 2018

1 reference

7 January 2021

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

1 reference

7 January 2021

Nav1.3 sodium channels: rapid repriming and slow closed-state inactivation display quantitative differences after expression in a mammalian cell line and in spinal sensory neurons.

1 reference

7 January 2021

Slow closed-state inactivation: a novel mechanism underlying ramp currents in cells expressing the hNE/PN1 sodium channel.

1 reference

7 January 2021

Downregulation of tetrodotoxin-resistant sodium currents and upregulation of a rapidly repriming tetrodotoxin-sensitive sodium current in small spinal sensory neurons after nerve injury.

1 reference

7 January 2021

Contribution of Na(v)1.8 sodium channels to action potential electrogenesis in DRG neurons

1 reference

7 January 2021

Roles of tetrodotoxin (TTX)-sensitive Na+ current, TTX-resistant Na+ current, and Ca2+ current in the action potentials of nociceptive sensory neurons.

1 reference

7 January 2021

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction

1 reference

7 January 2021

Sensory and electrophysiological properties of guinea-pig sensory neurones expressing Nav 1.7 (PN1) Na+ channel alpha subunit protein

1 reference

7 January 2021

alpha-SNS produces the slow TTX-resistant sodium current in large cutaneous afferent DRG neurons.

1 reference

7 January 2021

Ionic mechanisms of anoxic injury in mammalian CNS white matter: role of Na+ channels and Na(+)-Ca2+ exchanger.

1 reference

7 January 2021

Rescue of alpha-SNS sodium channel expression in small dorsal root ganglion neurons after axotomy by nerve growth factor in vivo.

1 reference

7 January 2021

mRNA for NGF and p75 in the central nervous system of rats affected by experimental allergic encephalomyelitis.

1 reference

7 January 2021

Abnormal Purkinje cell activity in vivo in experimental allergic encephalomyelitis.

1 reference

7 January 2021

Identifiers

DOI

10.1038/NN1857

1 reference

PubMed ID

17387329

Dimensions Publication ID

16 August 2017

0 references

1 reference

PubMed ID

17387329