233 related articles for article (PubMed ID: 30368457)
1. Assessment of parental mosaicism in
de Lange IM; Koudijs MJ; van 't Slot R; Sonsma ACM; Mulder F; Carbo EC; van Kempen MJA; Nijman IJ; Ernst RF; Savelberg SMC; Knoers NVAM; Brilstra EH; Koeleman BPC
J Med Genet; 2019 Feb; 56(2):75-80. PubMed ID: 30368457
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [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]
4. 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]
5. Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.
Yang X; Liu A; Xu X; Yang X; Zeng Q; Ye AY; Yu Z; Wang S; Huang AY; Wu X; Wu Q; Wei L; Zhang Y
Sci Rep; 2017 Nov; 7(1):15677. PubMed ID: 29142202
[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. [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]
8. [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]
9. 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]
10. 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]
11. Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.
Lee J; Lee C; Park WY; Lee J
Ann Clin Lab Sci; 2020 Sep; 50(5):625-637. PubMed ID: 33067208
[TBL] [Abstract][Full Text] [Related]
12. SCN1A-related epilepsy with recessive inheritance: Two further families.
Moretti R; Arnaud L; Bouteiller D; Trouillard O; Moreau P; Buratti J; Rastetter A; Keren B; Des Portes V; Toulouse J; Gourfinkel-An I; Leguern E; Depienne C; Mignot C; Nava C
Eur J Paediatr Neurol; 2021 Jul; 33():121-124. PubMed ID: 34174751
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family.
Tuncer FN; Gormez Z; Calik M; Altiokka Uzun G; Sagiroglu MS; Yuceturk B; Yuksel B; Baykan B; Bebek N; Iscan A; Ugur Iseri SA; Ozbek U
Epilepsy Res; 2015 Jul; 113():5-10. PubMed ID: 25986186
[TBL] [Abstract][Full Text] [Related]
15. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.
Myers KA; Burgess R; Afawi Z; Damiano JA; Berkovic SF; Hildebrand MS; Scheffer IE
Epilepsia; 2017 Feb; 58(2):e26-e30. PubMed ID: 28084635
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Parental mosaicism in epilepsies due to alleged de novo variants.
Møller RS; Liebmann N; Larsen LHG; Stiller M; Hentschel J; Kako N; Abdin D; Di Donato N; Pal DK; Zacher P; Syrbe S; Dahl HA; Lemke JR
Epilepsia; 2019 Jun; 60(6):e63-e66. PubMed ID: 31077350
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.
Brunklaus A; Ellis R; Stewart H; Aylett S; Reavey E; Jefferson R; Jain R; Chakraborty S; Jayawant S; Zuberi SM
Eur J Paediatr Neurol; 2015 Jul; 19(4):484-8. PubMed ID: 25795284
[TBL] [Abstract][Full Text] [Related]
20. [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]
[Next] [New Search]