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578 related items for PubMed ID: 20831750

  • 1. Sodium channel SCN1A and epilepsy: mutations and mechanisms.
    Escayg A, Goldin AL.
    Epilepsia; 2010 Sep; 51(9):1650-8. PubMed ID: 20831750
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  • 5. [Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].
    Xu XJ, Zhang YH, Sun HH, Liu XY, Wu HS, Wu XR.
    Zhonghua Er Ke Za Zhi; 2012 Aug; 50(8):580-6. PubMed ID: 23158734
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  • 6. NaV1.1 channels and epilepsy.
    Catterall WA, Kalume F, Oakley JC.
    J Physiol; 2010 Jun 01; 588(Pt 11):1849-59. PubMed ID: 20194124
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  • 7. 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. PubMed ID: 15277629
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  • 8. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
    Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R.
    Epilepsia; 2004 Feb 27; 45(2):149-58. PubMed ID: 14738422
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  • 9. Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.
    Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O.
    Epilepsy Res; 2003 Oct 27; 56(2-3):127-33. PubMed ID: 14642997
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  • 10. 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 27; 51(9):1669-78. PubMed ID: 20550552
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  • 11. A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.
    Tang B, Dutt K, Papale L, Rusconi R, Shankar A, Hunter J, Tufik S, Yu FH, Catterall WA, Mantegazza M, Goldin AL, Escayg A.
    Neurobiol Dis; 2009 Jul 27; 35(1):91-102. PubMed ID: 19409490
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  • 12. Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
    Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, Farrell K, Mackay M, Sadleir L, Bleasel A, Gill D, Webster R, Wirrell EC, Harbord M, Sisodiya S, Andermann E, Kivity S, Berkovic SF, Scheffer IE, Dibbens LM.
    Epilepsia; 2013 Sep 27; 54(9):e122-6. PubMed ID: 23895530
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  • 13. [Progress in molecular genetics of generalized epilepsy with febrile seizures plus].
    Sun HH, Zhang YH.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2008 Apr 27; 40(2):229-33. PubMed ID: 18458705
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  • 14. SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
    Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X.
    J Hum Genet; 2008 Apr 27; 53(8):769-774. PubMed ID: 18566737
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  • 15. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
    Ceulemans BP, Claes LR, Lagae LG.
    Pediatr Neurol; 2004 Apr 27; 30(4):236-43. PubMed ID: 15087100
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  • 16. Clinical spectrum of SCN1A mutations.
    Gambardella A, Marini C.
    Epilepsia; 2009 May 27; 50 Suppl 5():20-3. PubMed ID: 19469841
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  • 17. 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 27; 127(1):1-14. PubMed ID: 16380441
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  • 18. 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 10; 23(36):11289-95. PubMed ID: 14672992
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  • 19. SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
    van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N.
    Brain; 2023 Dec 01; 146(12):5153-5167. PubMed ID: 37467479
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  • 20. Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients.
    Herini ES, Gunadi, Harahap IS, Yusoff S, Morikawa S, Patria SY, Nishimura N, Sunartini, Sutaryo, Takada S, Matsuo M, Nishio H.
    Epilepsy Res; 2010 Jun 01; 90(1-2):132-9. PubMed ID: 20452746
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