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Items: 1 to 20 of 108

1.

Painful and painless channelopathies.

Bennett DL, Woods CG.

Lancet Neurol. 2014 Jun;13(6):587-99. doi: 10.1016/S1474-4422(14)70024-9. Epub 2014 May 6. Review.

PMID:
24813307
2.

Gain-of-function mutations in SCN11A cause familial episodic pain.

Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY.

Am J Hum Genet. 2013 Nov 7;93(5):957-66. doi: 10.1016/j.ajhg.2013.09.016. Epub 2013 Oct 24.

3.

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

Huang J, Han C, Estacion M, Vasylyev D, Hoeijmakers JG, Gerrits MM, Tyrrell L, Lauria G, Faber CG, Dib-Hajj SD, Merkies IS, Waxman SG; PROPANE Study Group.

Brain. 2014 Jun;137(Pt 6):1627-42. doi: 10.1093/brain/awu079. Epub 2014 Apr 27.

4.

Painful Na-channelopathies: an expanding universe.

Waxman SG.

Trends Mol Med. 2013 Jul;19(7):406-9. doi: 10.1016/j.molmed.2013.04.003. Epub 2013 May 8. Review.

PMID:
23664154
5.

The clinical approach to small fibre neuropathy and painful channelopathy.

Themistocleous AC, Ramirez JD, Serra J, Bennett DL.

Pract Neurol. 2014 Dec;14(6):368-79. doi: 10.1136/practneurol-2013-000758. Epub 2014 Apr 28. Review.

6.

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.

Emery EC, Habib AM, Cox JJ, Nicholas AK, Gribble FM, Woods CG, Reimann F.

J Neurosci. 2015 May 20;35(20):7674-81. doi: 10.1523/JNEUROSCI.3935-14.2015.

7.

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

Han C, Vasylyev D, Macala LJ, Gerrits MM, Hoeijmakers JG, Bekelaar KJ, Dib-Hajj SD, Faber CG, Merkies IS, Waxman SG.

J Neurol Neurosurg Psychiatry. 2014 May;85(5):499-505. doi: 10.1136/jnnp-2013-306095. Epub 2013 Sep 4.

PMID:
24006052
8.

Painful neuropathies: the emerging role of sodium channelopathies.

Brouwer BA, Merkies IS, Gerrits MM, Waxman SG, Hoeijmakers JG, Faber CG.

J Peripher Nerv Syst. 2014 Jun;19(2):53-65. doi: 10.1111/jns5.12071. Review.

PMID:
25250524
9.

Sodium channelopathies and pain.

Lampert A, O'Reilly AO, Reeh P, Leffler A.

Pflugers Arch. 2010 Jul;460(2):249-63. doi: 10.1007/s00424-009-0779-3. Epub 2010 Jan 26. Review.

PMID:
20101409
10.

Elevated peritoneal expression and estrogen regulation of nociceptive ion channels in endometriosis.

Greaves E, Grieve K, Horne AW, Saunders PT.

J Clin Endocrinol Metab. 2014 Sep;99(9):E1738-43. doi: 10.1210/jc.2014-2282. Epub 2014 Jul 16.

11.

Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.

Eberhardt M, Nakajima J, Klinger AB, Neacsu C, Hühne K, O'Reilly AO, Kist AM, Lampe AK, Fischer K, Gibson J, Nau C, Winterpacht A, Lampert A.

J Biol Chem. 2014 Jan 24;289(4):1971-80. doi: 10.1074/jbc.M113.502211. Epub 2013 Dec 5.

12.

Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder.

Kim DT, Rossignol E, Najem K, Ospina LH.

J AAPOS. 2015 Oct;19(5):478-9. doi: 10.1016/j.jaapos.2015.05.015.

PMID:
26486037
13.

[Neuropathic pain associated with Nav1.7 mutations: clinical picture and treatment].

Doppler K, Sommer C.

Nervenarzt. 2013 Dec;84(12):1428-35. doi: 10.1007/s00115-012-3621-7. Review. German.

PMID:
24202110
14.

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics.

Goldberg YP, Pimstone SN, Namdari R, Price N, Cohen C, Sherrington RP, Hayden MR.

Clin Genet. 2012 Oct;82(4):367-73. doi: 10.1111/j.1399-0004.2012.01942.x. Epub 2012 Aug 13. Review.

PMID:
22845492
15.

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

Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Stödberg T, Hennings JC, Bergmann M, Altmüller J, Thiele H, Wetzel A, Nürnberg P, Timmerman V, De Jonghe P, Blum R, Schaible HG, Weis J, Heinemann SH, Hübner CA, Kurth I.

Nat Genet. 2013 Nov;45(11):1399-404. doi: 10.1038/ng.2767. Epub 2013 Sep 15.

PMID:
24036948
16.

A gain-of-function voltage-gated sodium channel 1.8 mutation drives intense hyperexcitability of A- and C-fiber neurons.

Garrison SR, Weyer AD, Barabas ME, Beutler BA, Stucky CL.

Pain. 2014 May;155(5):896-905. doi: 10.1016/j.pain.2014.01.012. Epub 2014 Jan 18.

17.

Channelopathies, painful neuropathy, and diabetes: which way does the causal arrow point?

Hoeijmakers JG, Faber CG, Merkies IS, Waxman SG.

Trends Mol Med. 2014 Oct;20(10):544-50. doi: 10.1016/j.molmed.2014.06.003. Epub 2014 Jul 5.

PMID:
25008557
18.

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

Huang J, Yang Y, Zhao P, Gerrits MM, Hoeijmakers JG, Bekelaar K, Merkies IS, Faber CG, Dib-Hajj SD, Waxman SG.

J Neurosci. 2013 Aug 28;33(35):14087-97. doi: 10.1523/JNEUROSCI.2710-13.2013.

19.

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

Han C, Yang Y, de Greef BT, Hoeijmakers JG, Gerrits MM, Verhamme C, Qu J, Lauria G, Merkies IS, Faber CG, Dib-Hajj SD, Waxman SG.

Neuromolecular Med. 2015 Jun;17(2):158-69. doi: 10.1007/s12017-015-8347-9. Epub 2015 Mar 20.

PMID:
25791876
20.

Voltage-gated sodium channel mutations and painful neuropathy: Na(v)1.9 joins the family.

Bennett DL.

Brain. 2014 Jun;137(Pt 6):1574-6. doi: 10.1093/brain/awu105. Epub 2014 Apr 27. No abstract available.

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