293 related articles for article (PubMed ID: 17903680)
1. Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596).
Dlugos DJ; Ferraro TN; Buono RJ
Pediatr Neurol; 2007 Oct; 37(4):303-5. PubMed ID: 17903680
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
3. 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; 24(4):503-8. PubMed ID: 19339291
[TBL] [Abstract][Full Text] [Related]
4. 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
[TBL] [Abstract][Full Text] [Related]
5. Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
Dimova PS; Yordanova I; Bojinova V; Jordanova A; Kremenski I
Pediatr Neurol; 2010 Feb; 42(2):137-40. PubMed ID: 20117752
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. Clinical spectrum of SCN1A mutations.
Gambardella A; Marini C
Epilepsia; 2009 May; 50 Suppl 5():20-3. PubMed ID: 19469841
[TBL] [Abstract][Full Text] [Related]
9. SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
Ebach K; Joos H; Doose H; Stephani U; Kurlemann G; Fiedler B; Hahn A; Hauser E; Hundt K; Holthausen H; Müller U; Neubauer BA
Neuropediatrics; 2005 Jun; 36(3):210-3. PubMed ID: 15944908
[TBL] [Abstract][Full Text] [Related]
10. Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
Nicita F; Spalice A; Papetti L; Ursitti F; Parisi P; Gennaro E; Zara F; Iannetti P
J Child Neurol; 2010 Nov; 25(11):1369-76. PubMed ID: 20729507
[TBL] [Abstract][Full Text] [Related]
11. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Scheffer IE; Zhang YH; Jansen FE; Dibbens L
Brain Dev; 2009 May; 31(5):394-400. PubMed ID: 19203856
[TBL] [Abstract][Full Text] [Related]
12. A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
Nagao Y; Mazaki-Miyazaki E; Okamura N; Takagi M; Igarashi T; Yamakawa K
Epilepsy Res; 2005 Feb; 63(2-3):151-6. PubMed ID: 15715999
[TBL] [Abstract][Full Text] [Related]
13. A case of extended spectrum GEFS+.
Grant AC; Vazquez B
Epilepsia; 2005; 46 Suppl 10():39-40. PubMed ID: 16359470
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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
[TBL] [Abstract][Full Text] [Related]
16. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
Escayg A; MacDonald BT; Meisler MH; Baulac S; Huberfeld G; An-Gourfinkel I; Brice A; LeGuern E; Moulard B; Chaigne D; Buresi C; Malafosse A
Nat Genet; 2000 Apr; 24(4):343-5. PubMed ID: 10742094
[No Abstract] [Full Text] [Related]
17. Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus.
Sun H; Zhang Y; Liang J; Liu X; Ma X; Wu H; Xu K; Qin J; Qi Y; Wu X
Hum Genet; 2008 Oct; 124(3):298. PubMed ID: 18846618
[No Abstract] [Full Text] [Related]
18. A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland.
Specchio N; Trivisano M; Balestri M; Gennaro E; Specchio LM; Fusco L; Zara F; Vigevano F
Acta Neurol Belg; 2010 Sep; 110(3):281-3. PubMed ID: 21114141
[TBL] [Abstract][Full Text] [Related]
19. Genotype-phenotype associations in SCN1A-related epilepsies.
Zuberi SM; Brunklaus A; Birch R; Reavey E; Duncan J; Forbes GH
Neurology; 2011 Feb; 76(7):594-600. PubMed ID: 21248271
[TBL] [Abstract][Full Text] [Related]
20. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
Kearney JA; Wiste AK; Stephani U; Trudeau MM; Siegel A; RamachandranNair R; Elterman RD; Muhle H; Reinsdorf J; Shields WD; Meisler MH; Escayg A
Pediatr Neurol; 2006 Feb; 34(2):116-20. PubMed ID: 16458823
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]