A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia

scientific article

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/ANA.21678
P932PMC publication ID4103031
P698PubMed publication ID19557861

P50authorSulayman D Dib-HajjQ85290384
Stephen G WaxmanQ91085251
P2093author name stringElaine S Gilmore
Emmanuella Eastman
Mark Estacion
Michel Melanson
Sean Taylor
Tanya Z Fischer
P2860cites workSensory and electrophysiological properties of guinea-pig sensory neurones expressing Nav 1.7 (PN1) Na+ channel alpha subunit proteinQ78793355
Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cellsQ24314768
A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivityQ24679655
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypesQ28118877
From genes to pain: Na v 1.7 and human pain disordersQ28254063
Neurobiology: a channel sets the gain on painQ28278802
An SCN9A channelopathy causes congenital inability to experience painQ28278844
Frequency and voltage-dependent inhibition of type IIA Na+ channels, expressed in a mammalian cell line, by local anesthetic, antiarrhythmic, and anticonvulsant drugsQ28321838
Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channelQ28366485
Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neuronsQ28569751
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neuronsQ34426737
Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.Q34481638
Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gatingQ34569783
Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disordersQ34585790
A case of inherited erythromelalgiaQ34616126
The roles of sodium channels in nociception: Implications for mechanisms of painQ34674268
Warm-up phenomenon in myotonia associated with the V445M sodium channel mutationQ35884240
Erythermalgia: molecular basis for an inherited pain syndromeQ36309445
Multiple sodium channels and their roles in electrogenesis within dorsal root ganglion neuronsQ36678533
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsyQ39026830
Differential block of sensory neuronal voltage-gated sodium channels by lacosamide [(2R)-2-(acetylamino)-N-benzyl-3-methoxypropanamide], lidocaine, and carbamazepineQ39996628
Action of diazepam on the voltage-dependent Na+ current. Comparison with the effects of phenytoin, carbamazepine, lidocaine and flumazenilQ41684432
A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia.Q42549337
Slow closed-state inactivation: a novel mechanism underlying ramp currents in cells expressing the hNE/PN1 sodium channel.Q42686664
Inhibition of Na(+) current by imipramine and related compounds: different binding kinetics as an inactivation stabilizer and as an open channel blockerQ44187768
Liquid chromatography-electrospray mass spectrometry determination of carbamazepine, oxcarbazepine and eight of their metabolites in human plasmaQ46734762
Spinal sensory neurons express multiple sodium channel alpha-subunit mRNAsQ48826387
Differential block of two types of sodium channels by anticonvulsants.Q51556980
Voltage clamp analysis of the inhibitory actions of diphenylhydantoin and carbamazepine on voltage-sensitive sodium channels in neuroblastoma cellsQ69382924
Hereditary erythermalgia and acquired erythromelalgiaQ70642327
A novel muscle sodium channel mutation causes painful congenital myotoniaQ73929323
P433issue6
P304page(s)733-741
P577publication date2009-06-01
P1433published inAnnals of NeurologyQ564414
P1476titleA novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia
P478volume65

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