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 *

169 related articles for article (PubMed ID: 27021235)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Somatic mosaic deletions involving SCN1A cause Dravet syndrome.
    Nakayama T; Ishii A; Yoshida T; Nasu H; Shimojima K; Yamamoto T; Kure S; Hirose S
    Am J Med Genet A; 2018 Mar; 176(3):657-662. PubMed ID: 29341473
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome].
    Liu AJ; Yang XX; Xu XJ; Wu QX; Tian XJ; Yang XL; Wu XR; Wei LP; Zhang YH
    Zhonghua Er Ke Za Zhi; 2017 Nov; 55(11):818-823. PubMed ID: 29141311
    [No Abstract]   [Full Text] [Related]  

  • 7. 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]  

  • 8. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
    de Lange IM; Koudijs MJ; van 't Slot R; Gunning B; Sonsma ACM; van Gemert LJJM; Mulder F; Carbo EC; van Kempen MJA; Verbeek NE; Nijman IJ; Ernst RF; Savelberg SMC; Knoers NVAM; Brilstra EH; Koeleman BPC
    Epilepsia; 2018 Mar; 59(3):690-703. PubMed ID: 29460957
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009.
    Bayat A; Hjalgrim H; Møller RS
    Epilepsia; 2015 Apr; 56(4):e36-9. PubMed ID: 25778844
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report.
    El Mouhi H; Amllal N; Abbassi M; Nedbour A; Jalte M; Lyahyai J; Chafai Elalaoui S; Bouguenouch L; Chaouki S
    Mol Biol Rep; 2024 Jan; 51(1):233. PubMed ID: 38282049
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Genetics Analysis of patients with Dravet syndrome due to mosaicism variation of paternal SCN1A gene].
    Huo MZ; Niu WB; Xu JW; Shi H; Liu YD; Zhang YL
    Zhonghua Yi Xue Za Zhi; 2021 Apr; 101(16):1182-1185. PubMed ID: 33902251
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A.
    Xiong Z; Yi L; Cao D; He W; Chen J; Gao S; Sun X
    J Neurol Sci; 2016 Oct; 369():53-56. PubMed ID: 27653866
    [No Abstract]   [Full Text] [Related]  

  • 17. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
    Mei D; Cetica V; Marini C; Guerrini R
    Epilepsia; 2019 Dec; 60 Suppl 3():S2-S7. PubMed ID: 31904125
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.