458 related articles for article (PubMed ID: 14672992)
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
J Neurosci; 2003 Dec; 23(36):11289-95. PubMed ID: 14672992
[TBL] [Abstract][Full Text] [Related]
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
J Physiol; 2005 Dec; 569(Pt 2):433-45. PubMed ID: 16210358
[TBL] [Abstract][Full Text] [Related]
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
J Gen Physiol; 2006 Jan; 127(1):1-14. PubMed ID: 16380441
[TBL] [Abstract][Full Text] [Related]
4. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.
Rhodes TH; Lossin C; Vanoye CG; Wang DW; George AL
Proc Natl Acad Sci U S A; 2004 Jul; 101(30):11147-52. PubMed ID: 15263074
[TBL] [Abstract][Full Text] [Related]
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; 63(2):329-34. PubMed ID: 15277629
[TBL] [Abstract][Full Text] [Related]
6. Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
Ohmori I; Kahlig KM; Rhodes TH; Wang DW; George AL
Epilepsia; 2006 Oct; 47(10):1636-42. PubMed ID: 17054685
[TBL] [Abstract][Full Text] [Related]
7. NaV1.1 channels and epilepsy.
Catterall WA; Kalume F; Oakley JC
J Physiol; 2010 Jun; 588(Pt 11):1849-59. PubMed ID: 20194124
[TBL] [Abstract][Full Text] [Related]
8. 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; Koeleman BP; Rook MB
Eur J Neurosci; 2011 Oct; 34(8):1268-75. PubMed ID: 21864321
[TBL] [Abstract][Full Text] [Related]
9. 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; 16(23):2892-9. PubMed ID: 17881658
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 21156207
[TBL] [Abstract][Full Text] [Related]
11. 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):1678-1685. PubMed ID: 17561957
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 11823106
[TBL] [Abstract][Full Text] [Related]
13. Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation.
Kahlig KM; Misra SN; George AL
J Neurosci; 2006 Oct; 26(43):10958-66. PubMed ID: 17065438
[TBL] [Abstract][Full Text] [Related]
14. 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; 529 Pt 3(Pt 3):533-9. PubMed ID: 11118488
[TBL] [Abstract][Full Text] [Related]
15. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
Wallace RH; Hodgson BL; Grinton BE; Gardiner RM; Robinson R; Rodriguez-Casero V; Sadleir L; Morgan J; Harkin LA; Dibbens LM; Yamamoto T; Andermann E; Mulley JC; Berkovic SF; Scheffer IE
Neurology; 2003 Sep; 61(6):765-9. PubMed ID: 14504318
[TBL] [Abstract][Full Text] [Related]
16. Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects.
Sugiura Y; Ogiwara I; Hoshi A; Yamakawa K; Ugawa Y
Epilepsia; 2012 Jun; 53(6):e111-4. PubMed ID: 22525008
[TBL] [Abstract][Full Text] [Related]
17. Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
Liao WP; Shi YW; Long YS; Zeng Y; Li T; Yu MJ; Su T; Deng P; Lei ZG; Xu SJ; Deng WY; Liu XR; Sun WW; Yi YH; Xu ZC; Duan S
Epilepsia; 2010 Sep; 51(9):1669-78. PubMed ID: 20550552
[TBL] [Abstract][Full Text] [Related]
18. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
Spampanato J; Kearney JA; de Haan G; McEwen DP; Escayg A; Aradi I; MacDonald BT; Levin SI; Soltesz I; Benna P; Montalenti E; Isom LL; Goldin AL; Meisler MH
J Neurosci; 2004 Nov; 24(44):10022-34. PubMed ID: 15525788
[TBL] [Abstract][Full Text] [Related]
19. 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; 26(10):2714-23. PubMed ID: 16525050
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 19203856
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]