248 related articles for article (PubMed ID: 24464349)
1. A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.
Zeng T; Dong ZF; Liu SJ; Wan RP; Tang LJ; Liu T; Zhao QH; Shi YW; Yi YH; Liao WP; Long YS
Hum Genet; 2014 Jun; 133(6):801-11. PubMed ID: 24464349
[TBL] [Abstract][Full Text] [Related]
2. GAPDH-mediated posttranscriptional regulations of sodium channel Scn1a and Scn3a genes under seizure and ketogenic diet conditions.
Lin GW; Lu P; Zeng T; Tang HL; Chen YH; Liu SJ; Gao MM; Zhao QH; Yi YH; Long YS
Neuropharmacology; 2017 Feb; 113(Pt A):480-489. PubMed ID: 27816501
[TBL] [Abstract][Full Text] [Related]
3. Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.
Voskobiynyk Y; Battu G; Felker SA; Cochran JN; Newton MP; Lambert LJ; Kesterson RA; Myers RM; Cooper GM; Roberson ED; Barsh GS
PLoS Genet; 2021 Jan; 17(1):e1009195. PubMed ID: 33411788
[TBL] [Abstract][Full Text] [Related]
4. Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Hammer MF; Ishii A; Johnstone L; Tchourbanov A; Lau B; Sprissler R; Hallmark B; Zhang M; Zhou J; Watkins J; Hirose S
PLoS One; 2017; 12(7):e0180485. PubMed ID: 28686619
[TBL] [Abstract][Full Text] [Related]
5. Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome.
Hsiao J; Yuan TY; Tsai MS; Lu CY; Lin YC; Lee ML; Lin SW; Chang FC; Liu Pimentel H; Olive C; Coito C; Shen G; Young M; Thorne T; Lawrence M; Magistri M; Faghihi MA; Khorkova O; Wahlestedt C
EBioMedicine; 2016 Jul; 9():257-277. PubMed ID: 27333023
[TBL] [Abstract][Full Text] [Related]
6. Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.
Ishii A; Watkins JC; Chen D; Hirose S; Hammer MF
Epilepsia; 2017 Feb; 58(2):282-290. PubMed ID: 28012175
[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. 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]
9. 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]
10. Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.
Rampazzo ACM; Dos Santos RRP; Maluf FA; Simm RF; Marson FAL; Ortega MM; de Aguiar PHP
Neurogenetics; 2021 May; 22(2):105-115. PubMed ID: 33937968
[TBL] [Abstract][Full Text] [Related]
11. Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
Wang JW; Shi XY; Kurahashi H; Hwang SK; Ishii A; Higurashi N; Kaneko S; Hirose S;
Epilepsy Res; 2012 Dec; 102(3):195-200. PubMed ID: 23195492
[TBL] [Abstract][Full Text] [Related]
12. [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]
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. [Analysis of SCN1A gene variants among patients with Dravet syndrome].
Li L; Zhu D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):158-161. PubMed ID: 33565071
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation.
Shi X; Wang J; Kurahashi H; Ishii A; Higurashi N; Kaneko S; Hirose S
Brain Dev; 2012 Sep; 34(8):617-9. PubMed ID: 22206733
[TBL] [Abstract][Full Text] [Related]
18. Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.
Jiménez-Arredondo RE; Brambila-Tapia AJL; Mercado-Silva FM; Magaña-Torres MT; Figuera LE
Genet Mol Res; 2017 May; 16(2):. PubMed ID: 28525652
[TBL] [Abstract][Full Text] [Related]
19. Two mild cases of Dravet syndrome with truncating mutation of SCN1A.
Takaori T; Kumakura A; Ishii A; Hirose S; Hata D
Brain Dev; 2017 Jan; 39(1):72-74. PubMed ID: 27544716
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
