These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1323 related articles for article (PubMed ID: 16806826)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
    Fujiwara T; Sugawara T; Mazaki-Miyazaki E; Takahashi Y; Fukushima K; Watanabe M; Hara K; Morikawa T; Yagi K; Yamakawa K; Inoue Y
    Brain; 2003 Mar; 126(Pt 3):531-46. PubMed ID: 12566275
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. [Severe myoclonic epilepsy in infancy (Dravet's syndrome). Some genetic aspects].
    Herranz JL
    Rev Neurol; 2003 Jul 1-15; 37(1):60-3. PubMed ID: 12861511
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. [Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].
    Sun H; Zhang Y; Liu X; Ma X; Wu H; Xu K; Qin J; Qi Y; Wu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Apr; 26(2):121-7. PubMed ID: 19350499
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. [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]  

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

  • 19. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
    Rhodes TH; Vanoye CG; Ohmori I; Ogiwara I; Yamakawa K; George AL
    J Physiol; 2005 Dec; 569(Pt 2):433-45. PubMed ID: 16210358
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 67.