BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

353 related articles for article (PubMed ID: 19783390)

  • 1. Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
    Shi X; Yasumoto S; Nakagawa E; Fukasawa T; Uchiya S; Hirose S
    Brain Dev; 2009 Nov; 31(10):758-62. PubMed ID: 19783390
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical spectrum of SCN2A mutations.
    Shi X; Yasumoto S; Kurahashi H; Nakagawa E; Fukasawa T; Uchiya S; Hirose S
    Brain Dev; 2012 Aug; 34(7):541-5. PubMed ID: 22029951
    [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. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
    Suls A; Claeys KG; Goossens D; Harding B; Van Luijk R; Scheers S; Deprez L; Audenaert D; Van Dyck T; Beeckmans S; Smouts I; Ceulemans B; Lagae L; Buyse G; Barisic N; Misson JP; Wauters J; Del-Favero J; De Jonghe P; Claes LR
    Hum Mutat; 2006 Sep; 27(9):914-20. PubMed ID: 16865694
    [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. 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]  

  • 15. 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]  

  • 16. Confirming an expanded spectrum of SCN2A mutations: a case series.
    Matalon D; Goldberg E; Medne L; Marsh ED
    Epileptic Disord; 2014 Mar; 16(1):13-8. PubMed ID: 24659627
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
    Depienne C; Trouillard O; Gourfinkel-An I; Saint-Martin C; Bouteiller D; Graber D; Barthez-Carpentier MA; Gautier A; Villeneuve N; Dravet C; Livet MO; Rivier-Ringenbach C; Adam C; Dupont S; Baulac S; Héron D; Nabbout R; Leguern E
    J Med Genet; 2010 Jun; 47(6):404-10. PubMed ID: 20522430
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
    Heron SE; Scheffer IE; Iona X; Zuberi SM; Birch R; McMahon JM; Bruce CM; Berkovic SF; Mulley JC
    J Med Genet; 2010 Feb; 47(2):137-41. PubMed ID: 19589774
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular genetics of Dravet syndrome.
    De Jonghe P
    Dev Med Child Neurol; 2011 Apr; 53 Suppl 2():7-10. PubMed ID: 21504425
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.