BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1026 related articles for article (PubMed ID: 19666879)

  • 1. 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]  

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

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse.
    Mullen SA; Scheffer IE
    Arch Neurol; 2009 Jan; 66(1):21-6. PubMed ID: 19139296
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).
    Arlier Z; Bayri Y; Kolb LE; Erturk O; Ozturk AK; Bayrakli F; Bilguvar K; Moliterno JA; Dervent A; Demirbilek V; Yalcinkaya C; Korkmaz B; Tuysuz B; Gunel M
    J Child Neurol; 2010 Oct; 25(10):1265-8. PubMed ID: 20110217
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report.
    Stefanaki E; Aggelakou V; Orfanou M; Kokori E; Boutoufianakis S
    Acta Paediatr; 2006 Dec; 95(12):1703-6. PubMed ID: 17129991
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.
    Verbeek NE; van Kempen M; Gunning WB; Renier WO; Westland B; Lindhout D; Brilstra EH
    Epilepsia; 2011 Apr; 52(4):e23-5. PubMed ID: 21371021
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
    Striano P; Mancardi MM; Biancheri R; Madia F; Gennaro E; Paravidino R; Beccaria F; Capovilla G; Dalla Bernardina B; Darra F; Elia M; Giordano L; Gobbi G; Granata T; Ragona F; Guerrini R; Marini C; Mei D; Longaretti F; Romeo A; Siri L; Specchio N; Vigevano F; Striano S; Tortora F; Rossi A; Minetti C; Dravet C; Gaggero R; Zara F
    Epilepsia; 2007 Jun; 48(6):1092-6. PubMed ID: 17381446
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
    Depienne C; Trouillard O; Saint-Martin C; Gourfinkel-An I; Bouteiller D; Carpentier W; Keren B; Abert B; Gautier A; Baulac S; Arzimanoglou A; Cazeneuve C; Nabbout R; LeGuern E
    J Med Genet; 2009 Mar; 46(3):183-91. PubMed ID: 18930999
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The genetics of Dravet syndrome.
    Marini C; Scheffer IE; Nabbout R; Suls A; De Jonghe P; Zara F; Guerrini R
    Epilepsia; 2011 Apr; 52 Suppl 2():24-9. PubMed ID: 21463275
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Advances in the identification and management of severe epilepsy syndromes of early childhood: focus on SCN1A.
    Douglass LM
    J Child Neurol; 2009 Aug; 24(8 Suppl):4S-5S. PubMed ID: 19666877
    [No Abstract]   [Full Text] [Related]  

  • 17. How do mutant Nav1.1 sodium channels cause epilepsy?
    Ragsdale DS
    Brain Res Rev; 2008 Jun; 58(1):149-59. PubMed ID: 18342948
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.
    Yordanova I; Todorov T; Dimova P; Hristova D; Tincheva R; Litvinenko I; Yotovska O; Kremensky I; Todorova A
    Neurosci Lett; 2011 Apr; 494(2):180-3. PubMed ID: 21396429
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
    Claes L; Ceulemans B; Audenaert D; Smets K; Löfgren A; Del-Favero J; Ala-Mello S; Basel-Vanagaite L; Plecko B; Raskin S; Thiry P; Wolf NI; Van Broeckhoven C; De Jonghe P
    Hum Mutat; 2003 Jun; 21(6):615-21. PubMed ID: 12754708
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 52.