BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

379 related articles for article (PubMed ID: 21248271)

  • 41. A case of extended spectrum GEFS+.
    Grant AC; Vazquez B
    Epilepsia; 2005; 46 Suppl 10():39-40. PubMed ID: 16359470
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
    Mahoney K; Moore SJ; Buckley D; Alam M; Parfrey P; Penney S; Merner N; Hodgkinson K; Young TL
    Seizure; 2009 Sep; 18(7):492-7. PubMed ID: 19464195
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
    Abou-Khalil B; Ge Q; Desai R; Ryther R; Bazyk A; Bailey R; Haines JL; Sutcliffe JS; George AL
    Neurology; 2001 Dec; 57(12):2265-72. PubMed ID: 11756608
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Febrile seizures, genetic (generalized) epilepsy with febrile seizures plus, and Dravet's syndrome.
    Scanlon A; Cook SS
    J Spec Pediatr Nurs; 2010 Apr; 15(2):154-9. PubMed ID: 20367785
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
    Kanai K; Hirose S; Oguni H; Fukuma G; Shirasaka Y; Miyajima T; Wada K; Iwasa H; Yasumoto S; Matsuo M; Ito M; Mitsudome A; Kaneko S
    Neurology; 2004 Jul; 63(2):329-34. PubMed ID: 15277629
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Focal epilepsy resulting from a de novo SCN1A mutation.
    Okumura A; Kurahashi H; Hirose S; Okawa N; Watanabe K
    Neuropediatrics; 2007 Oct; 38(5):253-6. PubMed ID: 18330841
    [TBL] [Abstract][Full Text] [Related]  

  • 48. 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]  

  • 49. A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+.
    Hindocha N; Nabbout R; Elmslie F; Makoff A; Al-Chalabi A; Nashef L
    Epilepsia; 2009 Apr; 50(4):937-42. PubMed ID: 19054398
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. Two novel mutations in SCN1A gene in Iranian patients with epilepsy.
    Ebrahimi A; Houshmand M; Tonekaboni SH; Fallah Mahboob Passand MS; Zainali S; Moghadasi M
    Arch Med Res; 2010 Apr; 41(3):207-14. PubMed ID: 20682179
    [TBL] [Abstract][Full Text] [Related]  

  • 52. 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]  

  • 53. Genes and mutations in idiopathic epilepsy.
    Steinlein OK
    Am J Med Genet; 2001; 106(2):139-45. PubMed ID: 11579434
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
    Mulley JC; Hodgson B; McMahon JM; Iona X; Bellows S; Mullen SA; Farrell K; Mackay M; Sadleir L; Bleasel A; Gill D; Webster R; Wirrell EC; Harbord M; Sisodiya S; Andermann E; Kivity S; Berkovic SF; Scheffer IE; Dibbens LM
    Epilepsia; 2013 Sep; 54(9):e122-6. PubMed ID: 23895530
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.
    Rilstone JJ; Coelho FM; Minassian BA; Andrade DM
    Epilepsia; 2012 Aug; 53(8):1421-8. PubMed ID: 22780858
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Replication of association between a SCN1A splice variant and febrile seizures.
    Le Gal F; Salzmann A; Crespel A; Malafosse A
    Epilepsia; 2011 Oct; 52(10):e135-8. PubMed ID: 21762453
    [TBL] [Abstract][Full Text] [Related]  

  • 57. De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+).
    Tan EH; Razak SA; Abdullah JM; Mohamed Yusoff AA
    Epilepsy Res; 2012 Dec; 102(3):210-5. PubMed ID: 22944210
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Parental SCN1A mutation mosaicism in familial Dravet syndrome.
    Selmer KK; Eriksson AS; Brandal K; Egeland T; Tallaksen C; Undlien DE
    Clin Genet; 2009 Oct; 76(4):398-403. PubMed ID: 19673951
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. [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]  

    [Previous]   [Next]    [New Search]
    of 19.