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 *

158 related articles for article (PubMed ID: 20431604)

  • 1. Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
    Sun H; Zhang Y; Liu X; Ma X; Yang Z; Qin J; Jiang Y; Qi Y; Wu X
    J Hum Genet; 2010 Jul; 55(7):421-7. PubMed ID: 20431604
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome].
    Sun H; Zhang Y; Xu X; Liu X; Wu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Aug; 32(4):457-61. PubMed ID: 26252084
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Genetic and phenotypic characteristics of SCN1A mutations in Dravet syndrome].
    Xu XJ; Zhang YH; Sun HH; Liu XY; Jiang YW; Wu XR
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):625-30. PubMed ID: 23225037
    [TBL] [Abstract][Full Text] [Related]  

  • 5. SCN1A mutational analysis in Korean patients with Dravet syndrome.
    Lim BC; Hwang H; Chae JH; Choi JE; Hwang YS; Kang SH; Ki CS; Kim KJ
    Seizure; 2011 Dec; 20(10):789-94. PubMed ID: 21868258
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report.
    Sharkia R; Hengel H; Schöls L; Athamna M; Bauer P; Mahajnah M
    J Med Case Rep; 2016 Mar; 10():67. PubMed ID: 27021235
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.
    Jiang T; Shen Y; Chen H; Yuan Z; Mao S; Gao F
    Medicine (Baltimore); 2018 Dec; 97(50):e13565. PubMed ID: 30558019
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
    Kwong AK; Fung CW; Chan SY; Wong VC
    PLoS One; 2012; 7(7):e41802. PubMed ID: 22848613
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Analysis of SCN1A deletions or duplications in patients with Dravet syndrome].
    Zeng Q; Zhang Y; Yang X; Xu X; Zhang J; Tian X; Liu A; Liu X; Jiang Y; Wu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec; 34(6):787-791. PubMed ID: 29188601
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
    Singh NA; Pappas C; Dahle EJ; Claes LR; Pruess TH; De Jonghe P; Thompson J; Dixon M; Gurnett C; Peiffer A; White HS; Filloux F; Leppert MF
    PLoS Genet; 2009 Sep; 5(9):e1000649. PubMed ID: 19763161
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [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]  

  • 13. SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
    Sun H; Zhang Y; Liang J; Liu X; Ma X; Wu H; Xu K; Qin J; Qi Y; Wu X
    J Hum Genet; 2008; 53(8):769-774. PubMed ID: 18566737
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.
    Berkovic SF; Harkin L; McMahon JM; Pelekanos JT; Zuberi SM; Wirrell EC; Gill DS; Iona X; Mulley JC; Scheffer IE
    Lancet Neurol; 2006 Jun; 5(6):488-92. PubMed ID: 16713920
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
    Xu X; Yang X; Wu Q; Liu A; Yang X; Ye AY; Huang AY; Li J; Wang M; Yu Z; Wang S; Zhang Z; Wu X; Wei L; Zhang Y
    Hum Mutat; 2015 Sep; 36(9):861-72. PubMed ID: 26096185
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy.
    Madia F; Striano P; Gennaro E; Malacarne M; Paravidino R; Biancheri R; Budetta M; Cilio MR; Gaggero R; Pierluigi M; Minetti C; Zara F
    Neurology; 2006 Oct; 67(7):1230-5. PubMed ID: 17030758
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
    Marini C; Scheffer IE; Nabbout R; Mei D; Cox K; Dibbens LM; McMahon JM; Iona X; Carpintero RS; Elia M; Cilio MR; Specchio N; Giordano L; Striano P; Gennaro E; Cross JH; Kivity S; Neufeld MY; Afawi Z; Andermann E; Keene D; Dulac O; Zara F; Berkovic SF; Guerrini R; Mulley JC
    Epilepsia; 2009 Jul; 50(7):1670-8. PubMed ID: 19400878
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
    Depienne C; Arzimanoglou A; Trouillard O; Fedirko E; Baulac S; Saint-Martin C; Ruberg M; Dravet C; Nabbout R; Baulac M; Gourfinkel-An I; LeGuern E
    Hum Mutat; 2006 Apr; 27(4):389. PubMed ID: 16541393
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
    Claes L; Del-Favero J; Ceulemans B; Lagae L; Van Broeckhoven C; De Jonghe P
    Am J Hum Genet; 2001 Jun; 68(6):1327-32. PubMed ID: 11359211
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.