BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

540 related articles for article (PubMed ID: 19139296)

  • 1. 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]  

  • 2. 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]  

  • 3. Molecular basis of severe myoclonic epilepsy in infancy.
    Yamakawa K
    Brain Dev; 2009 May; 31(5):401-4. PubMed ID: 19203854
    [TBL] [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; 31(5):394-400. PubMed ID: 19203856
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

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

  • 7. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.
    Yu FH; Mantegazza M; Westenbroek RE; Robbins CA; Kalume F; Burton KA; Spain WJ; McKnight GS; Scheuer T; Catterall WA
    Nat Neurosci; 2006 Sep; 9(9):1142-9. PubMed ID: 16921370
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
    Osaka H; Ogiwara I; Mazaki E; Okamura N; Yamashita S; Iai M; Yamada M; Kurosawa K; Iwamoto H; Yasui-Furukori N; Kaneko S; Fujiwara T; Inoue Y; Yamakawa K
    Epilepsy Res; 2007 Jun; 75(1):46-51. PubMed ID: 17507202
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.
    Xu R; Thomas EA; Gazina EV; Richards KL; Quick M; Wallace RH; Harkin LA; Heron SE; Berkovic SF; Scheffer IE; Mulley JC; Petrou S
    Neuroscience; 2007 Aug; 148(1):164-74. PubMed ID: 17629415
    [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. Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.
    Gennaro E; Veggiotti P; Malacarne M; Madia F; Cecconi M; Cardinali S; Cassetti A; Cecconi I; Bertini E; Bianchi A; Gobbi G; Zara F
    Epileptic Disord; 2003 Mar; 5(1):21-5. PubMed ID: 12773292
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.
    Castro MJ; Stam AH; Lemos C; de Vries B; Vanmolkot KR; Barros J; Terwindt GM; Frants RR; Sequeiros J; Ferrari MD; Pereira-Monteiro JM; van den Maagdenberg AM
    Cephalalgia; 2009 Mar; 29(3):308-13. PubMed ID: 19220312
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
    Livingston JH; Cross JH; Mclellan A; Birch R; Zuberi SM
    J Child Neurol; 2009 Apr; 24(4):503-8. PubMed ID: 19339291
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood.
    Zupanc ML
    J Child Neurol; 2009 Aug; 24(8 Suppl):6S-14S. PubMed ID: 19666878
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 27.