BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 25569746)

  • 1. A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit?
    Passamonti C; Petrelli C; Mei D; Foschi N; Guerrini R; Provinciali L; Zamponi N
    Epilepsy Behav; 2015 Feb; 43():89-92. PubMed ID: 25569746
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].
    Xu XJ; Zhang YH; Sun HH; Liu XY; Wu HS; Wu XR
    Zhonghua Er Ke Za Zhi; 2012 Aug; 50(8):580-6. PubMed ID: 23158734
    [TBL] [Abstract][Full Text] [Related]  

  • 3. From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.
    Hoffman-Zacharska D; Szczepanik E; Terczynska I; Goszczanska-Ciuchta A; Zalewska-Miszkurka Z; Tataj R; Bal J
    Neurol Neurochir Pol; 2015; 49(4):258-66. PubMed ID: 26188943
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus.
    Goldberg-Stern H; Aharoni S; Afawi Z; Bennett O; Appenzeller S; Pendziwiat M; Kuhlenbäumer G; Basel-Vanagaite L; Shuper A; Korczyn AD; Helbig I
    J Child Neurol; 2014 Feb; 29(2):221-6. PubMed ID: 24257433
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.
    Myers KA; Burgess R; Afawi Z; Damiano JA; Berkovic SF; Hildebrand MS; Scheffer IE
    Epilepsia; 2017 Feb; 58(2):e26-e30. PubMed ID: 28084635
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report.
    Terczyńska I; Szczepanik E; Duszyc K; Górka P; Tataj R; Hoffman-Zacharska D
    Dev Period Med; 2014; 18(4):426-31. PubMed ID: 25874779
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
    Marini C; Mei D; Temudo T; Ferrari AR; Buti D; Dravet C; Dias AI; Moreira A; Calado E; Seri S; Neville B; Narbona J; Reid E; Michelucci R; Sicca F; Cross HJ; Guerrini R
    Epilepsia; 2007 Sep; 48(9):1678-1685. PubMed ID: 17561957
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.
    Brunklaus A; Ellis R; Stewart H; Aylett S; Reavey E; Jefferson R; Jain R; Chakraborty S; Jayawant S; Zuberi SM
    Eur J Paediatr Neurol; 2015 Jul; 19(4):484-8. PubMed ID: 25795284
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Vaccination and occurrence of seizures in SCN1A mutation-positive patients: a multicenter Italian study.
    Zamponi N; Passamonti C; Petrelli C; Veggiotti P; Baldassari C; Verrotti A; Capovilla G; Viri M; Coppola G; Vignoli A
    Pediatr Neurol; 2014 Mar; 50(3):228-32. PubMed ID: 24405698
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
    van Hugte EJH; Lewerissa EI; Wu KM; Scheefhals N; Parodi G; van Voorst TW; Puvogel S; Kogo N; Keller JM; Frega M; Schubert D; Schelhaas HJ; Verhoeven J; Majoie M; van Bokhoven H; Nadif Kasri N
    Brain; 2023 Dec; 146(12):5153-5167. PubMed ID: 37467479
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?
    Lim BC; Hwang H; Kim H; Chae JH; Choi J; Kim KJ; Hwang YS; Yum MS; Ko TS
    Epilepsy Res; 2015 Jan; 109():34-9. PubMed ID: 25524840
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.
    Kivity S; Oliver KL; Afawi Z; Damiano JA; Arsov T; Bahlo M; Berkovic SF
    Epilepsy Res; 2017 Mar; 131():9-14. PubMed ID: 28192756
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A novel inherited SCN1A mutation associated with GEFS+ in benign and encephalopathic epilepsy.
    Gauthier AC; Manganas LN; Mattson RH
    J Clin Neurosci; 2017 Jun; 40():82-84. PubMed ID: 28262406
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.
    de Lange IM; Gunning B; Sonsma ACM; van Gemert L; van Kempen M; Verbeek NE; Nicolai J; Knoers NVAM; Koeleman BPC; Brilstra EH
    Epilepsia; 2018 Jun; 59(6):1154-1165. PubMed ID: 29750338
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.
    Bisulli F; Licchetta L; Baldassari S; Muccioli L; Marconi C; Cantalupo G; Myers C; Menghi V; Minardi R; Caporali L; Marini C; Guerrini R; Mefford HC; Tinuper P; Pippucci T
    Epileptic Disord; 2019 Apr; 21(2):185-191. PubMed ID: 30977726
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.
    Till Á; Zima J; Fekete A; Bene J; Czakó M; Szabó A; Melegh B; Hadzsiev K
    Seizure; 2020 Jan; 74():8-13. PubMed ID: 31765958
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Outcomes and comorbidities of SCN1A-related seizure disorders.
    de Lange IM; Gunning B; Sonsma ACM; van Gemert L; van Kempen M; Verbeek NE; Sinoo C; Nicolai J; Knoers NVAM; Koeleman BPC; Brilstra EH
    Epilepsy Behav; 2019 Jan; 90():252-259. PubMed ID: 30527252
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.