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Journal Abstract Search

140 related items for PubMed ID: 21248272

  • 1. Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS+.
    Scheffer IE.
    Neurology; 2011 Feb 15; 76(7):588-9. PubMed ID: 21248272
    [No Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+).
    Baulac M, Gourfinkel-An I, Baulac S, Leguern E.
    Adv Neurol; 2005 Feb 15; 95():119-25. PubMed ID: 15508917
    [No Abstract] [Full Text] [Related]

  • 4. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    Scheffer IE, Zhang YH, Jansen FE, Dibbens L.
    Brain Dev; 2009 May 15; 31(5):394-400. PubMed ID: 19203856
    [Abstract] [Full Text] [Related]

  • 5. [Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus].
    Lin H, Wang YP, Wang MY, Wu LW.
    Zhonghua Yi Xue Za Zhi; 2008 Dec 09; 88(45):3177-81. PubMed ID: 19171087
    [Abstract] [Full Text] [Related]

  • 6. 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 09; 90(1-2):132-9. PubMed ID: 20452746
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  • 9. 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 09; 30(4):236-43. PubMed ID: 15087100
    [Abstract] [Full Text] [Related]

  • 10. 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 09; 24(4):343-5. PubMed ID: 10742094
    [No Abstract] [Full Text] [Related]

  • 11. Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).
    Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF.
    Epilepsia; 2005 Apr 09; 46 Suppl 10():41-7. PubMed ID: 16359471
    [No Abstract] [Full Text] [Related]

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  • 13. SCN1A variant in a Scandinavian GEFS+ family: a wolf in sheep's clothing?
    Holland KD.
    Acta Neurol Scand; 2008 Nov 09; 118(5):344-5; author reply 346. PubMed ID: 18616623
    [No Abstract] [Full Text] [Related]

  • 14. 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 09; 63(2-3):151-6. PubMed ID: 15715999
    [Abstract] [Full Text] [Related]

  • 15. 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 09; 51(9):1669-78. PubMed ID: 20550552
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  • 17. Clinical spectrum of SCN1A mutations.
    Gambardella A, Marini C.
    Epilepsia; 2009 May 09; 50 Suppl 5():20-3. PubMed ID: 19469841
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  • 18. Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
    Selmer KK, Egeland T, Solaas MH, Nakken KO, Kjeldsen MJ, Friis ML, Brandal K, Corey LA, Undlien DE.
    Acta Neurol Scand; 2008 Apr 09; 117(4):289-92. PubMed ID: 17927801
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  • 19. 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 09; 25(11):1369-76. PubMed ID: 20729507
    [Abstract] [Full Text] [Related]

  • 20. [Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus].
    Wang XH, Zhou SZ, Guo Q, Sun DK.
    Zhonghua Er Ke Za Zhi; 2009 Aug 09; 47(8):570-4. PubMed ID: 19951487
    [Abstract] [Full Text] [Related]

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