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.
5. 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]
6. 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]
7. Extending the Phenotype Related to Marco-Hernández AV; Caro-Llopis A; Rubio Sánchez P; Martínez Martínez JC; Tomás Vila M; Monfort S; Martínez F J Child Neurol; 2022 Apr; 37(5):340-350. PubMed ID: 35072530 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype. Peycheva V; Ivanova N; Kamenarova K; Panova M; Pacheva I; Ivanov I; Bojidarova M; Tacheva G; Stamatov D; Litvinenko I; Hristova D; Deneva D; Rodopska E; Slavkova E; Aleksandrova I; Simeonov E; Dimova P; Bojinova V; Mitev V; Jordanova A; Kaneva R Turk J Pediatr; 2020; 62(5):711-725. PubMed ID: 33108073 [TBL] [Abstract][Full Text] [Related]
12. [De novo SCN1A gene deletion in therapy-resistant Dravet syndrome]. Bene J; Hadzsiev K; Komlósi K; Kövesdi E; Mátyás P; Melegh B Orv Hetil; 2015 Dec; 156(49):2009-12. PubMed ID: 26614543 [TBL] [Abstract][Full Text] [Related]
13. Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+). Ma H; Guo Y; Chen Z; Wang L; Tang Z; Zhang J; Miao Q; Zhai Q Seizure; 2021 May; 88():146-152. PubMed ID: 33895391 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures. Saitoh M; Ishii A; Ihara Y; Hoshino A; Terashima H; Kubota M; Kikuchi K; Yamanaka G; Amemiya K; Hirose S; Mizuguchi M Epilepsy Res; 2015 Nov; 117():1-6. PubMed ID: 26311622 [TBL] [Abstract][Full Text] [Related]
17. Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children. Fang ZX; Hong SQ; Li TS; Wang J; Xie LL; Han W; Jiang L Neuroreport; 2019 Jun; 30(9):671-680. PubMed ID: 31009440 [TBL] [Abstract][Full Text] [Related]