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Journal Abstract Search

822 related items for PubMed ID: 23158734

  • 1. [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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  • 4. [Genetic and phenotypic characteristics of SCN1A mutations in Dravet syndrome].
    Xu XJ, Zhang YH, Sun HH, Liu XY, Jiang YW, Wu XR.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):625-30. PubMed ID: 23225037
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  • 5. 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
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  • 6. Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report.
    Terczyńska I, Szczepanik E, Duszyc K, Górka P, Tataj R, Hoffman-Zacharska D.
    Dev Period Med; 2014 Sep; 18(4):426-31. PubMed ID: 25874779
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  • 7. 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; 90(1-2):132-9. PubMed ID: 20452746
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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; 45(2):149-58. PubMed ID: 14738422
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  • 9. From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.
    Hoffman-Zacharska D, Szczepanik E, Terczynska I, Goszczanska-Ciuchta A, Zalewska-Miszkurka Z, Tataj R, Bal J.
    Neurol Neurochir Pol; 2015 Feb; 49(4):258-66. PubMed ID: 26188943
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  • 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. PubMed ID: 19203856
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  • 13. 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. PubMed ID: 18632234
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  • 14. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
    Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, Sutcliffe JS, George AL.
    Neurology; 2001 Dec 26; 57(12):2265-72. PubMed ID: 11756608
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  • 15. 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 26; 48(1-2):15-23. PubMed ID: 11823106
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  • 16. Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
    Shi YW, Yu MJ, Long YS, Qin B, He N, Meng H, Liu XR, Deng WY, Gao MM, Yi YH, Li BM, Liao WP.
    Genes Brain Behav; 2012 Mar 26; 11(2):170-6. PubMed ID: 22151702
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  • 17. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.
    Myers KA, Burgess R, Afawi Z, Damiano JA, Berkovic SF, Hildebrand MS, Scheffer IE.
    Epilepsia; 2017 Feb 26; 58(2):e26-e30. PubMed ID: 28084635
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  • 18. SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.
    Usluer S, Salar S, Arslan M, Yiş U, Kara B, Tektürk P, Baykan B, Meral C, Türkdoğan D, Bebek N, Yalçın Çapan Ö, Gündoğdu Eken A, Çağlayan SH.
    Seizure; 2016 Jul 26; 39():34-43. PubMed ID: 27236449
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  • 19. Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.
    Brunklaus A, Ellis R, Stewart H, Aylett S, Reavey E, Jefferson R, Jain R, Chakraborty S, Jayawant S, Zuberi SM.
    Eur J Paediatr Neurol; 2015 Jul 26; 19(4):484-8. PubMed ID: 25795284
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  • 20. A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures.
    Jingami N, Matsumoto R, Ito H, Ishii A, Ihara Y, Hirose S, Ikeda A, Takahashi R.
    Epileptic Disord; 2014 Jun 26; 16(2):227-31. PubMed ID: 24842605
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