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Items: 1 to 20 of 111

1.

Novel SCN3A variants associated with focal epilepsy in children.

Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA.

Neurobiol Dis. 2014 Feb;62:313-22. doi: 10.1016/j.nbd.2013.10.015. Epub 2013 Oct 21.

2.

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Lim BC, Hwang H, Kim H, Chae JH, Choi J, Kim KJ, Hwang YS, Yum MS, Ko TS.

Epilepsy Res. 2015 Jan;109:34-9. doi: 10.1016/j.eplepsyres.2014.10.008. Epub 2014 Oct 28.

PMID:
25524840
3.

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy.

Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH.

Neurosci Lett. 2008 Mar 5;433(1):65-70. doi: 10.1016/j.neulet.2007.12.064. Epub 2008 Jan 11.

4.

Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.

Chen YJ, Shi YW, Xu HQ, Chen ML, Gao MM, Sun WW, Tang B, Zeng Y, Liao WP.

Mol Neurobiol. 2015;51(3):1263-70. doi: 10.1007/s12035-014-8802-x. Epub 2014 Jul 3.

PMID:
24990319
5.

SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.

Haerian BS, Baum L, Kwan P, Tan HJ, Raymond AA, Mohamed Z.

Pharmacogenomics. 2013 Jul;14(10):1153-66. doi: 10.2217/pgs.13.104.

PMID:
23859570
6.

Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures.

Celle ME, Cuoco C, Porta S, Gimelli G, Tassano E.

Gene. 2013 Dec 15;532(2):294-6. doi: 10.1016/j.gene.2013.09.073. Epub 2013 Sep 28.

PMID:
24080482
7.

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

Rhodes TH, Vanoye CG, Ohmori I, Ogiwara I, Yamakawa K, George AL Jr.

J Physiol. 2005 Dec 1;569(Pt 2):433-45. Epub 2005 Oct 6.

8.

A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons.

Estacion M, Gasser A, Dib-Hajj SD, Waxman SG.

Exp Neurol. 2010 Aug;224(2):362-8. doi: 10.1016/j.expneurol.2010.04.012. Epub 2010 Apr 24.

PMID:
20420834
9.

Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.

Vanoye CG, Lossin C, Rhodes TH, George AL Jr.

J Gen Physiol. 2006 Jan;127(1):1-14.

10.

Ranolazine selectively blocks persistent current evoked by epilepsy-associated Naν1.1 mutations.

Kahlig KM, Lepist I, Leung K, Rajamani S, George AL.

Br J Pharmacol. 2010 Nov;161(6):1414-26. doi: 10.1111/j.1476-5381.2010.00976.x.

11.

The response of Na(V)1.3 sodium channels to ramp stimuli: multiple components and mechanisms.

Estacion M, Waxman SG.

J Neurophysiol. 2013 Jan;109(2):306-14. doi: 10.1152/jn.00438.2012. Epub 2012 Oct 31.

13.

NaV1.1 channels and epilepsy.

Catterall WA, Kalume F, Oakley JC.

J Physiol. 2010 Jun 1;588(Pt 11):1849-59. doi: 10.1113/jphysiol.2010.187484. Epub 2010 Mar 1. Review.

14.

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.

Hawkins NA, Martin MS, Frankel WN, Kearney JA, Escayg A.

Neurobiol Dis. 2011 Mar;41(3):655-60. doi: 10.1016/j.nbd.2010.11.016. Epub 2010 Dec 13.

15.

CRMP2 protein SUMOylation modulates NaV1.7 channel trafficking.

Dustrude ET, Wilson SM, Ju W, Xiao Y, Khanna R.

J Biol Chem. 2013 Aug 23;288(34):24316-31. doi: 10.1074/jbc.M113.474924. Epub 2013 Jul 8.

16.

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

Lossin C, Rhodes TH, Desai RR, Vanoye CG, Wang D, Carniciu S, Devinsky O, George AL Jr.

J Neurosci. 2003 Dec 10;23(36):11289-95.

17.

Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

Jarecki BW, Piekarz AD, Jackson JO 2nd, Cummins TR.

J Clin Invest. 2010 Jan;120(1):369-78. doi: 10.1172/JCI40801. Epub 2009 Dec 28.

18.

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.

Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A.

Hum Mol Genet. 2007 Dec 1;16(23):2892-9. Epub 2007 Sep 19.

PMID:
17881658
19.

Addition of a single methyl group to a small molecule sodium channel inhibitor introduces a new mode of gating modulation.

Wang L, Zellmer SG, Printzenhoff DM, Castle NA.

Br J Pharmacol. 2015 Oct;172(20):4905-18. doi: 10.1111/bph.13259. Epub 2015 Oct 15.

20.

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

Volkers L, Kahlig KM, Verbeek NE, Das JH, van Kempen MJ, Stroink H, Augustijn P, van Nieuwenhuizen O, Lindhout D, George AL Jr, Koeleman BP, Rook MB.

Eur J Neurosci. 2011 Oct;34(8):1268-75. doi: 10.1111/j.1460-9568.2011.07826.x. Epub 2011 Aug 22.

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