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Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.

Thompson CH, Porter JC, Kahlig KM, Daniels MA, George AL Jr.

J Biol Chem. 2012 Dec 7;287(50):42001-8. doi: 10.1074/jbc.M112.421883. Epub 2012 Oct 19.


Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

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

Proc Natl Acad Sci U S A. 2004 Jul 27;101(30):11147-52. Epub 2004 Jul 19.


Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

Ohmori I, Kahlig KM, Rhodes TH, Wang DW, George AL Jr.

Epilepsia. 2006 Oct;47(10):1636-42.


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.


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.


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.


Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

Sugawara T, Tsurubuchi Y, Fujiwara T, Mazaki-Miyazaki E, Nagata K, Montal M, Inoue Y, Yamakawa K.

Epilepsy Res. 2003 May;54(2-3):201-7.


Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.

Jiao J, Yang Y, Shi Y, Chen J, Gao R, Fan Y, Yao H, Liao W, Sun XF, Gao S.

Hum Mol Genet. 2013 Nov 1;22(21):4241-52. doi: 10.1093/hmg/ddt275. Epub 2013 Jun 16.


Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum.

Bechi G, Rusconi R, Cestèle S, Striano P, Franceschetti S, Mantegazza M.

Neurobiol Dis. 2015 Mar;75:100-14. doi: 10.1016/j.nbd.2014.12.028. Epub 2015 Jan 6.


SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs.

Thompson CH, Kahlig KM, George AL Jr.

Epilepsia. 2011 May;52(5):1000-9. doi: 10.1111/j.1528-1167.2011.03040.x. Epub 2011 Mar 31.


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.


Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S.

Epilepsia. 2004 Feb;45(2):140-8.


Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.

Fujiwara T.

Epilepsy Res. 2006 Aug;70 Suppl 1:S223-30. Epub 2006 Jun 27. Review.


Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.

Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S.

Neurology. 2004 Jul 27;63(2):329-34. Review.


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.


Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

Liu Y, Lopez-Santiago LF, Yuan Y, Jones JM, Zhang H, O'Malley HA, Patino GA, O'Brien JE, Rusconi R, Gupta A, Thompson RC, Natowicz MR, Meisler MH, Isom LL, Parent JM.

Ann Neurol. 2013 Jul;74(1):128-39. doi: 10.1002/ana.23897. Epub 2013 Jul 2. Erratum in: Ann Neurol. 2015 Nov;78(5):838.


Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Kwong AK, Fung CW, Chan SY, Wong VC.

PLoS One. 2012;7(7):e41802. doi: 10.1371/journal.pone.0041802. Epub 2012 Jul 25.


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.


On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation.

Shi X, Wang J, Kurahashi H, Ishii A, Higurashi N, Kaneko S, Hirose S.

Brain Dev. 2012 Sep;34(8):617-9. doi: 10.1016/j.braindev.2011.11.005. Epub 2011 Dec 27.


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