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Results: 1 to 20 of 390

1.

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.

PMID:
14672992
[PubMed - indexed for MEDLINE]
Free Article
2.

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.

PMID:
16210358
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
16380441
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
15263074
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
15277629
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
17054685
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
Free Article
8.

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A.

Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S.

Epilepsy Res. 2002 Jan;48(1-2):15-23.

PMID:
11823106
[PubMed - indexed for MEDLINE]
9.

Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation.

Kahlig KM, Misra SN, George AL Jr.

J Neurosci. 2006 Oct 25;26(43):10958-66.

PMID:
17065438
[PubMed - indexed for MEDLINE]
Free Article
10.

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

Scheffer IE, Zhang YH, Jansen FE, Dibbens L.

Brain Dev. 2009 May;31(5):394-400. doi: 10.1016/j.braindev.2009.01.001. Epub 2009 Feb 8. Review.

PMID:
19203856
[PubMed - indexed for MEDLINE]
11.

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.

Alekov A, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H.

J Physiol. 2000 Dec 15;529 Pt 3:533-9.

PMID:
11118488
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus.

Kumakura A, Ito M, Hata D, Oh N, Kurahashi H, Wang JW, Hirose S.

Brain Dev. 2009 Feb;31(2):179-82. doi: 10.1016/j.braindev.2008.06.001. Epub 2008 Jul 15.

PMID:
18632234
[PubMed - indexed for MEDLINE]
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.

PMID:
20194124
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.

Epilepsia. 2007 Sep;48(9):1678-85. Epub 2007 Jun 11.

PMID:
17561957
[PubMed - indexed for MEDLINE]
15.

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M.

Brain Dev. 2005 Sep;27(6):424-30. Epub 2005 Jan 12.

PMID:
16122630
[PubMed - indexed for MEDLINE]
16.

Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.

Xu R, Thomas EA, Gazina EV, Richards KL, Quick M, Wallace RH, Harkin LA, Heron SE, Berkovic SF, Scheffer IE, Mulley JC, Petrou S.

Neuroscience. 2007 Aug 10;148(1):164-74. Epub 2007 Jul 12.

PMID:
17629415
[PubMed - indexed for MEDLINE]
17.

Clinical spectrum of SCN1A mutations.

Gambardella A, Marini C.

Epilepsia. 2009 May;50 Suppl 5:20-3. doi: 10.1111/j.1528-1167.2009.02115.x. Review.

PMID:
19469841
[PubMed - indexed for MEDLINE]
18.

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT.

Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489.

PMID:
18413471
[PubMed - indexed for MEDLINE]
19.

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P.

Am J Hum Genet. 2001 Jun;68(6):1327-32. Epub 2001 May 15.

PMID:
11359211
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.

Barela AJ, Waddy SP, Lickfett JG, Hunter J, Anido A, Helmers SL, Goldin AL, Escayg A.

J Neurosci. 2006 Mar 8;26(10):2714-23.

PMID:
16525050
[PubMed - indexed for MEDLINE]
Free Article

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