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.
2. 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 [Abstract] [Full Text] [Related]
3. Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? Sijben AE, Sithinamsuwan P, Radhakrishnan A, Badawy RA, Dibbens L, Mazarib A, Lev D, Lerman-Sagie T, Straussberg R, Berkovic SF, Scheffer IE. Epilepsia; 2009 Apr; 50(4):953-6. PubMed ID: 19292758 [Abstract] [Full Text] [Related]
4. Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+. Selmer KK, Egeland T, Solaas MH, Nakken KO, Kjeldsen MJ, Friis ML, Brandal K, Corey LA, Undlien DE. Acta Neurol Scand; 2008 Apr; 117(4):289-92. PubMed ID: 17927801 [Abstract] [Full Text] [Related]
5. Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. Herini ES, Gunadi, Harahap IS, Yusoff S, Morikawa S, Patria SY, Nishimura N, Sunartini, Sutaryo, Takada S, Matsuo M, Nishio H. Epilepsy Res; 2010 Jun; 90(1-2):132-9. PubMed ID: 20452746 [Abstract] [Full Text] [Related]
6. Clinical spectrum of SCN1A mutations. Gambardella A, Marini C. Epilepsia; 2009 May; 50 Suppl 5():20-3. PubMed ID: 19469841 [Abstract] [Full Text] [Related]
7. Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus. Kumakura A, Ito M, Hata D, Oh N, Kurahashi H, Wang JW, Hirose S. Brain Dev; 2009 Feb; 31(2):179-82. PubMed ID: 18632234 [Abstract] [Full Text] [Related]
8. Progress in searching for the febrile seizure susceptibility genes. Nakayama J. Brain Dev; 2009 May; 31(5):359-65. PubMed ID: 19201561 [Abstract] [Full Text] [Related]
9. Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene. Guerrini R, Cellini E, Mei D, Metitieri T, Petrelli C, Pucatti D, Marini C, Zamponi N. Epilepsia; 2010 Dec; 51(12):2474-7. PubMed ID: 21204810 [Abstract] [Full Text] [Related]
10. Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1. Liao WP, Shi YW, Long YS, Zeng Y, Li T, Yu MJ, Su T, Deng P, Lei ZG, Xu SJ, Deng WY, Liu XR, Sun WW, Yi YH, Xu ZC, Duan S. Epilepsia; 2010 Sep; 51(9):1669-78. PubMed ID: 20550552 [Abstract] [Full Text] [Related]
11. 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 [Abstract] [Full Text] [Related]
12. One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. Yordanova I, Todorov T, Dimova P, Hristova D, Tincheva R, Litvinenko I, Yotovska O, Kremensky I, Todorova A. Neurosci Lett; 2011 Apr 25; 494(2):180-3. PubMed ID: 21396429 [Abstract] [Full Text] [Related]
13. 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 25; 24(8 Suppl):15S-23S. PubMed ID: 19666879 [Abstract] [Full Text] [Related]
15. [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 25; 50(8):580-6. PubMed ID: 23158734 [Abstract] [Full Text] [Related]
16. Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. Stefanaki E, Aggelakou V, Orfanou M, Kokori E, Boutoufianakis S. Acta Paediatr; 2006 Dec 25; 95(12):1703-6. PubMed ID: 17129991 [Abstract] [Full Text] [Related]
18. [Severe myoclonic epilepsy in infancy (Dravet's syndrome). Some genetic aspects]. Herranz JL. Rev Neurol; 2006 Dec 25; 37(1):60-3. PubMed ID: 12861511 [Abstract] [Full Text] [Related]
19. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Epilepsia; 2004 Feb 25; 45(2):149-58. PubMed ID: 14738422 [Abstract] [Full Text] [Related]
20. A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. Livingston JH, Cross JH, Mclellan A, Birch R, Zuberi SM. J Child Neurol; 2009 Apr 25; 24(4):503-8. PubMed ID: 19339291 [Abstract] [Full Text] [Related] Page: [Next] [New Search]