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. SCN1A testing for epilepsy: application in clinical practice. Hirose S; Scheffer IE; Marini C; De Jonghe P; Andermann E; Goldman AM; Kauffman M; Tan NC; Lowenstein DH; Sisodiya SM; Ottman R; Berkovic SF; Epilepsia; 2013 May; 54(5):946-52. PubMed ID: 23586701 [TBL] [Abstract][Full Text] [Related]
6. Development and Validation of a Prediction Model for Early Diagnosis of Brunklaus A; Pérez-Palma E; Ghanty I; Xinge J; Brilstra E; Ceulemans B; Chemaly N; de Lange I; Depienne C; Guerrini R; Mei D; Møller RS; Nabbout R; Regan BM; Schneider AL; Scheffer IE; Schoonjans AS; Symonds JD; Weckhuysen S; Kattan MW; Zuberi SM; Lal D Neurology; 2022 Mar; 98(11):e1163-e1174. PubMed ID: 35074891 [TBL] [Abstract][Full Text] [Related]
7. Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. Stafstrom CE J Child Neurol; 2009 Aug; 24(8 Suppl):15S-23S. PubMed ID: 19666879 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Fujiwara T Epilepsy Res; 2006 Aug; 70 Suppl 1():S223-30. PubMed ID: 16806826 [TBL] [Abstract][Full Text] [Related]
12. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brunklaus A; Ellis R; Reavey E; Forbes GH; Zuberi SM Brain; 2012 Aug; 135(Pt 8):2329-36. PubMed ID: 22719002 [TBL] [Abstract][Full Text] [Related]
13. Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Mulley JC; Hodgson B; McMahon JM; Iona X; Bellows S; Mullen SA; Farrell K; Mackay M; Sadleir L; Bleasel A; Gill D; Webster R; Wirrell EC; Harbord M; Sisodiya S; Andermann E; Kivity S; Berkovic SF; Scheffer IE; Dibbens LM Epilepsia; 2013 Sep; 54(9):e122-6. PubMed ID: 23895530 [TBL] [Abstract][Full Text] [Related]
14. Comorbidities and predictors of health-related quality of life in Dravet syndrome. Brunklaus A; Dorris L; Zuberi SM Epilepsia; 2011 Aug; 52(8):1476-82. PubMed ID: 21668444 [TBL] [Abstract][Full Text] [Related]
15. Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. Zucca C; Redaelli F; Epifanio R; Zanotta N; Romeo A; Lodi M; Veggiotti P; Airoldi G; Panzeri C; Romaniello R; De Polo G; Bonanni P; Cardinali S; Baschirotto C; Martorell L; Borgatti R; Bresolin N; Bassi MT Arch Neurol; 2008 Apr; 65(4):489-94. PubMed ID: 18413471 [TBL] [Abstract][Full Text] [Related]
16. Vaccination and occurrence of seizures in SCN1A mutation-positive patients: a multicenter Italian study. Zamponi N; Passamonti C; Petrelli C; Veggiotti P; Baldassari C; Verrotti A; Capovilla G; Viri M; Coppola G; Vignoli A Pediatr Neurol; 2014 Mar; 50(3):228-32. PubMed ID: 24405698 [TBL] [Abstract][Full Text] [Related]
17. 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]
19. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Ceulemans BP; Claes LR; Lagae LG Pediatr Neurol; 2004 Apr; 30(4):236-43. PubMed ID: 15087100 [TBL] [Abstract][Full Text] [Related]
20. Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood. Zupanc ML J Child Neurol; 2009 Aug; 24(8 Suppl):6S-14S. PubMed ID: 19666878 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]