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Journal Abstract Search

394 related items for PubMed ID: 20117752

  • 1. Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
    Dimova PS, Yordanova I, Bojinova V, Jordanova A, Kremenski I.
    Pediatr Neurol; 2010 Feb; 42(2):137-40. PubMed ID: 20117752
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  • 2. 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; 30(4):236-43. PubMed ID: 15087100
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  • 3. 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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  • 4. A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
    Livingston JH, Cross JH, Mclellan A, Birch R, Zuberi SM.
    J Child Neurol; 2009 Apr; 24(4):503-8. PubMed ID: 19339291
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  • 7. Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
    Sijben AE, Sithinamsuwan P, Radhakrishnan A, Badawy RA, Dibbens L, Mazarib A, Lev D, Lerman-Sagie T, Straussberg R, Berkovic SF, Scheffer IE.
    Epilepsia; 2009 Apr; 50(4):953-6. PubMed ID: 19292758
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  • 8. Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596).
    Dlugos DJ, Ferraro TN, Buono RJ.
    Pediatr Neurol; 2007 Oct; 37(4):303-5. PubMed ID: 17903680
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  • 10. Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.
    Guerrini R, Cellini E, Mei D, Metitieri T, Petrelli C, Pucatti D, Marini C, Zamponi N.
    Epilepsia; 2010 Dec; 51(12):2474-7. PubMed ID: 21204810
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  • 12. 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. PubMed ID: 18413471
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  • 13. Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
    Nicita F, Spalice A, Papetti L, Ursitti F, Parisi P, Gennaro E, Zara F, Iannetti P.
    J Child Neurol; 2010 Nov; 25(11):1369-76. PubMed ID: 20729507
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  • 14. SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
    Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Müller U, Neubauer BA.
    Neuropediatrics; 2005 Jun; 36(3):210-3. PubMed ID: 15944908
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  • 15. A case of extended spectrum GEFS+.
    Grant AC, Vazquez B.
    Epilepsia; 2005 Jun; 46 Suppl 10():39-40. PubMed ID: 16359470
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  • 16. A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
    Nagao Y, Mazaki-Miyazaki E, Okamura N, Takagi M, Igarashi T, Yamakawa K.
    Epilepsy Res; 2005 Feb; 63(2-3):151-6. PubMed ID: 15715999
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