BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

353 related articles for article (PubMed ID: 19783390)

  • 21. On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation.
    Shi X; Wang J; Kurahashi H; Ishii A; Higurashi N; Kaneko S; Hirose S
    Brain Dev; 2012 Sep; 34(8):617-9. PubMed ID: 22206733
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clinical spectrum of SCN1A mutations.
    Gambardella A; Marini C
    Epilepsia; 2009 May; 50 Suppl 5():20-3. PubMed ID: 19469841
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.
    Fendri-Kriaa N; Boujilbene S; Kammoun F; Mkaouar-Rebai E; Ben Mahmoud A; Hsairi I; Rebai A; Triki C; Fakhfakh F
    Biochem Biophys Res Commun; 2011 May; 408(4):654-7. PubMed ID: 21531204
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
    Kearney JA; Wiste AK; Stephani U; Trudeau MM; Siegel A; RamachandranNair R; Elterman RD; Muhle H; Reinsdorf J; Shields WD; Meisler MH; Escayg A
    Pediatr Neurol; 2006 Feb; 34(2):116-20. PubMed ID: 16458823
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.
    Ogiwara I; Nakayama T; Yamagata T; Ohtani H; Mazaki E; Tsuchiya S; Inoue Y; Yamakawa K
    Epilepsia; 2012 Dec; 53(12):e200-3. PubMed ID: 23148524
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The spectrum of SCN1A-related infantile epileptic encephalopathies.
    Harkin LA; McMahon JM; Iona X; Dibbens L; Pelekanos JT; Zuberi SM; Sadleir LG; Andermann E; Gill D; Farrell K; Connolly M; Stanley T; Harbord M; Andermann F; Wang J; Batish SD; Jones JG; Seltzer WK; Gardner A; ; Sutherland G; Berkovic SF; Mulley JC; Scheffer IE
    Brain; 2007 Mar; 130(Pt 3):843-52. PubMed ID: 17347258
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.
    McIntosh AM; McMahon J; Dibbens LM; Iona X; Mulley JC; Scheffer IE; Berkovic SF
    Lancet Neurol; 2010 Jun; 9(6):592-8. PubMed ID: 20447868
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Early clinical features in Dravet syndrome patients with and without SCN1A mutations.
    Petrelli C; Passamonti C; Cesaroni E; Mei D; Guerrini R; Zamponi N; Provinciali L
    Epilepsy Res; 2012 Mar; 99(1-2):21-7. PubMed ID: 22071555
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
    Kimura K; Sugawara T; Mazaki-Miyazaki E; Hoshino K; Nomura Y; Tateno A; Hachimori K; Yamakawa K; Segawa M
    Brain Dev; 2005 Sep; 27(6):424-30. PubMed ID: 16122630
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.
    Ohmori I; Ouchida M; Miki T; Mimaki N; Kiyonaka S; Nishiki T; Tomizawa K; Mori Y; Matsui H
    Neurobiol Dis; 2008 Dec; 32(3):349-54. PubMed ID: 18755274
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].
    Siegler Z; Neuwirth M; Hegyi M; Paraicz E; Pálmafy B; Tegzes A; Barsi P; Karcagi V; Claes L; De Jonghe P; Herczegfalvi A; Fogarasi A
    Ideggyogy Sz; 2008 Nov; 61(11-12):402-8. PubMed ID: 19070316
    [TBL] [Abstract][Full Text] [Related]  

  • 33. SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features.
    Selmer KK; Lund C; Brandal K; Undlien DE; Brodtkorb E
    Epilepsy Behav; 2009 Nov; 16(3):555-7. PubMed ID: 19782004
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A screening test for the prediction of Dravet syndrome before one year of age.
    Hattori J; Ouchida M; Ono J; Miyake S; Maniwa S; Mimaki N; Ohtsuka Y; Ohmori I
    Epilepsia; 2008 Apr; 49(4):626-33. PubMed ID: 18076640
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
    Azmanov DN; Zhelyazkova S; Dimova PS; Radionova M; Bojinova V; Florez L; Smith SJ; Tournev I; Jablensky A; Mulley J; Scheffer I; Kalaydjieva L; Sander JW
    Epileptic Disord; 2010 Jun; 12(2):117-24. PubMed ID: 20562086
    [TBL] [Abstract][Full Text] [Related]  

  • 36. SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
    Herlenius E; Heron SE; Grinton BE; Keay D; Scheffer IE; Mulley JC; Berkovic SF
    Epilepsia; 2007 Jun; 48(6):1138-42. PubMed ID: 17386050
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
    Brunklaus A; Ellis R; Reavey E; Forbes GH; Zuberi SM
    Brain; 2012 Aug; 135(Pt 8):2329-36. PubMed ID: 22719002
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.
    Stafstrom CE
    J Child Neurol; 2009 Aug; 24(8 Suppl):15S-23S. PubMed ID: 19666879
    [TBL] [Abstract][Full Text] [Related]  

  • 39. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
    Marini C; Scheffer IE; Nabbout R; Mei D; Cox K; Dibbens LM; McMahon JM; Iona X; Carpintero RS; Elia M; Cilio MR; Specchio N; Giordano L; Striano P; Gennaro E; Cross JH; Kivity S; Neufeld MY; Afawi Z; Andermann E; Keene D; Dulac O; Zara F; Berkovic SF; Guerrini R; Mulley JC
    Epilepsia; 2009 Jul; 50(7):1670-8. PubMed ID: 19400878
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
    Vadlamudi L; Dibbens LM; Lawrence KM; Iona X; McMahon JM; Murrell W; Mackay-Sim A; Scheffer IE; Berkovic SF
    N Engl J Med; 2010 Sep; 363(14):1335-40. PubMed ID: 20879882
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.