268 related articles for article (PubMed ID: 26841829)
1. Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.
Maeda H; Chiyonobu T; Yoshida M; Yamashita S; Zuiki M; Kidowaki S; Isoda K; Yamakawa K; Morimoto M; Nakahata T; Saito MK; Hosoi H
J Hum Genet; 2016 Jun; 61(6):565-9. PubMed ID: 26841829
[TBL] [Abstract][Full Text] [Related]
2. Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations.
Schuster J; Fatima A; Sobol M; Norradin FH; Laan L; Dahl N
Stem Cell Res; 2019 Aug; 39():101523. PubMed ID: 31400703
[TBL] [Abstract][Full Text] [Related]
3. Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients.
Kim HW; Quan Z; Kim YB; Cheong E; Kim HD; Cho M; Jang J; Yoo YR; Lee JS; Kim JH; Kim YI; Kim DS; Kang HC
Brain Dev; 2018 Apr; 40(4):287-298. PubMed ID: 29295803
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. 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]
6. [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]
7. 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]
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. 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]
10. Generation of SCN1A Knock out induced pluripotent stem cell (iPSC) line.
Shan W; Yang X; Ren Q; Wang Q
Stem Cell Res; 2021 Aug; 55():102452. PubMed ID: 34247112
[TBL] [Abstract][Full Text] [Related]
11. Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development.
Tsai MS; Lee ML; Chang CY; Fan HH; Yu IS; Chen YT; You JY; Chen CY; Chang FC; Hsiao JH; Khorkova O; Liou HH; Yanagawa Y; Lee LJ; Lin SW
Neurobiol Dis; 2015 May; 77():35-48. PubMed ID: 25725421
[TBL] [Abstract][Full Text] [Related]
12. Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment.
Schuster J; Laan L; Klar J; Jin Z; Huss M; Korol S; Noraddin FH; Sobol M; Birnir B; Dahl N
Neurobiol Dis; 2019 Dec; 132():104583. PubMed ID: 31445158
[TBL] [Abstract][Full Text] [Related]
13. Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene.
Tanaka Y; Higurashi N; Shirasu N; Yasunaga S; Moreira KM; Okano H; Hirose S
Stem Cell Res; 2018 Aug; 31():11-15. PubMed ID: 29981888
[TBL] [Abstract][Full Text] [Related]
14. Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.
Jiao J; Yang Y; Shi Y; Chen J; Gao R; Fan Y; Yao H; Liao W; Sun XF; Gao S
Hum Mol Genet; 2013 Nov; 22(21):4241-52. PubMed ID: 23773995
[TBL] [Abstract][Full Text] [Related]
15. Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
Hawkins NA; Zachwieja NJ; Miller AR; Anderson LL; Kearney JA
PLoS Genet; 2016 Oct; 12(10):e1006398. PubMed ID: 27768696
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene.
Tanaka Y; Sone T; Higurashi N; Sakuma T; Suzuki S; Ishikawa M; Yamamoto T; Mitsui J; Tsuji H; Okano H; Hirose S
Stem Cell Res; 2018 Apr; 28():100-104. PubMed ID: 29453127
[TBL] [Abstract][Full Text] [Related]
18. A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.
Sun Y; Paşca SP; Portmann T; Goold C; Worringer KA; Guan W; Chan KC; Gai H; Vogt D; Chen YJ; Mao R; Chan K; Rubenstein JL; Madison DV; Hallmayer J; Froehlich-Santino WM; Bernstein JA; Dolmetsch RE
Elife; 2016 Jul; 5():. PubMed ID: 27458797
[TBL] [Abstract][Full Text] [Related]
19. Dravet syndrome and its mimics: Beyond SCN1A.
Steel D; Symonds JD; Zuberi SM; Brunklaus A
Epilepsia; 2017 Nov; 58(11):1807-1816. PubMed ID: 28880996
[TBL] [Abstract][Full Text] [Related]
20. [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]
[Next] [New Search]
