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Journal Abstract Search

290 related items for PubMed ID: 17903680

  • 1. 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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  • 4. 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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  • 5. 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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  • 6. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.
    Fujiwara T.
    Epilepsy Res; 2006 Aug; 70 Suppl 1():S223-30. PubMed ID: 16806826
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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. Clinical spectrum of SCN1A mutations.
    Gambardella A, Marini C.
    Epilepsia; 2009 May; 50 Suppl 5():20-3. PubMed ID: 19469841
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  • 9. 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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  • 10. 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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  • 11. 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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  • 16. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
    Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A.
    Nat Genet; 2000 Apr; 24(4):343-5. PubMed ID: 10742094
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  • 17. Gene symbol: SCN1A. Disease: 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.
    Hum Genet; 2008 Oct; 124(3):298. PubMed ID: 18846618
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  • 18. A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland.
    Specchio N, Trivisano M, Balestri M, Gennaro E, Specchio LM, Fusco L, Zara F, Vigevano F.
    Acta Neurol Belg; 2010 Sep; 110(3):281-3. PubMed ID: 21114141
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  • 19. Genotype-phenotype associations in SCN1A-related epilepsies.
    Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH.
    Neurology; 2011 Feb 15; 76(7):594-600. PubMed ID: 21248271
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