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

scientific article published on April 2007

Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1002698945
P356DOI10.1038/NN1857
P698PubMed publication ID17387329
P5875ResearchGate publication ID6420907

P2093author name stringStephen G Waxman
P2860cites workSodium channel mutations in epilepsy and other neurological disordersQ36216288
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Open-channel block by the cytoplasmic tail of sodium channel beta4 as a mechanism for resurgent sodium currentQ45233496
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Structure and function of a novel voltage-gated, tetrodotoxin-resistant sodium channel specific to sensory neurons.Q48065579
Expression of Nav1.8 sodium channels perturbs the firing patterns of cerebellar Purkinje cellsQ48422070
Rescue of α-SNS Sodium Channel Expression in Small Dorsal Root Ganglion Neurons After Axotomy by Nerve Growth Factor In VivoQ48941318
A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalitiesQ49049294
mRNA for NGF and p75 in the central nervous system of rats affected by experimental allergic encephalomyelitisQ49127983
The TTX-resistant sodium channel Nav1.8 (SNS/PN3): expression and correlation with membrane properties in rat nociceptive primary afferent neuronsQ51295679
alpha-SNS produces the slow TTX-resistant sodium current in large cutaneous afferent DRG neuronsQ51386667
Downregulation of tetrodotoxin-resistant sodium currents and upregulation of a rapidly repriming tetrodotoxin-sensitive sodium current in small spinal sensory neurons after nerve injury.Q51542388
Ionic mechanisms of anoxic injury in mammalian CNS white matter: role of Na+ channels and Na(+)-Ca2+ exchangerQ51697656
Upregulation and colocalization of p75 and Nav1.8 in Purkinje neurons in experimental autoimmune encephalomyelitisQ53731135
Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2aQ54634416
A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1AQ58417059
Sensory and electrophysiological properties of guinea-pig sensory neurones expressing Nav 1.7 (PN1) Na+ channel alpha subunit proteinQ78793355
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2Q22253421
A quantitative description of membrane current and its application to conduction and excitation in nerveQ22337072
Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axonsQ24300238
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancyQ24533495
A single sodium channel mutation produces hyper- or hypoexcitability in different types of neuronsQ24546007
Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory painQ24562888
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgiaQ24675844
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1AQ28191292
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizuresQ28207332
Molecular basis of an inherited epilepsyQ28207595
Pathomechanisms in channelopathies of skeletal muscle and brainQ28246271
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental declineQ28251184
An SCN9A channelopathy causes congenital inability to experience painQ28278844
International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channelsQ28289125
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interactionQ28291611
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitabilityQ28300929
Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neuronsQ28569751
A tetrodotoxin-resistant voltage-gated sodium channel expressed by sensory neuronsQ28570486
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancyQ28585126
Impaired neurogenic control of skin perfusion in erythromelalgiaQ32068468
Erythromelalgia: vasculopathy, neuropathy, or both? A prospective study of vascular and neurophysiologic studies in erythromelalgiaQ33194068
A comparison of the potential role of the tetrodotoxin-insensitive sodium channels, PN3/SNS and NaN/SNS2, in rat models of chronic painQ33679477
Contribution of Na(v)1.8 sodium channels to action potential electrogenesis in DRG neuronsQ34086296
Roles of tetrodotoxin (TTX)-sensitive Na+ current, TTX-resistant Na+ current, and Ca2+ current in the action potentials of nociceptive sensory neurons.Q34160850
Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.Q34350866
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neuronsQ34426737
Sensory neuron-specific sodium channel SNS is abnormally expressed in the brains of mice with experimental allergic encephalomyelitis and humans with multiple sclerosisQ35325861
Inherited Channelopathies Associated with EpilepsyQ35962079
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectphenotypeQ104053
P304page(s)405-409
P577publication date2007-04-01
P13046publication type of scholarly workreview articleQ7318358
P1433published inNature NeuroscienceQ1535359
P1476titleChannel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype
P478volume10

Reverse relations

cites work (P2860)
Q54373490Arachidonic acid modulates Na+ currents by non-metabolic and metabolic pathways in rat cerebellar granule cells
Q41933122Autism and Epilepsy: Exploring the Relationship Using Experimental Models
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Q33563907Calpain mediates proteolysis of the voltage-gated sodium channel alpha-subunit
Q35434773Channelopathies: Summary of the hot topic keynotes session
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Q30855778DDESC: Dragon database for exploration of sodium channels in human
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