586 related articles for article (PubMed ID: 21463275)
1. The genetics of Dravet syndrome.
Marini C; Scheffer IE; Nabbout R; Suls A; De Jonghe P; Zara F; Guerrini R
Epilepsia; 2011 Apr; 52 Suppl 2():24-9. PubMed ID: 21463275
[TBL] [Abstract][Full Text] [Related]
2. Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).
Arlier Z; Bayri Y; Kolb LE; Erturk O; Ozturk AK; Bayrakli F; Bilguvar K; Moliterno JA; Dervent A; Demirbilek V; Yalcinkaya C; Korkmaz B; Tuysuz B; Gunel M
J Child Neurol; 2010 Oct; 25(10):1265-8. PubMed ID: 20110217
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
Claes L; Ceulemans B; Audenaert D; Smets K; Löfgren A; Del-Favero J; Ala-Mello S; Basel-Vanagaite L; Plecko B; Raskin S; Thiry P; Wolf NI; Van Broeckhoven C; De Jonghe P
Hum Mutat; 2003 Jun; 21(6):615-21. PubMed ID: 12754708
[TBL] [Abstract][Full Text] [Related]
6. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C; Scheffer IE; Nabbout R; Mei D; Cox K; Dibbens LM; McMahon JM; Iona X; Carpintero RS; Elia M; Cilio MR; Specchio N; Giordano L; Striano P; Gennaro E; Cross JH; Kivity S; Neufeld MY; Afawi Z; Andermann E; Keene D; Dulac O; Zara F; Berkovic SF; Guerrini R; Mulley JC
Epilepsia; 2009 Jul; 50(7):1670-8. PubMed ID: 19400878
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
Suls A; Claeys KG; Goossens D; Harding B; Van Luijk R; Scheers S; Deprez L; Audenaert D; Van Dyck T; Beeckmans S; Smouts I; Ceulemans B; Lagae L; Buyse G; Barisic N; Misson JP; Wauters J; Del-Favero J; De Jonghe P; Claes LR
Hum Mutat; 2006 Sep; 27(9):914-20. PubMed ID: 16865694
[TBL] [Abstract][Full Text] [Related]
10. 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; 494(2):180-3. PubMed ID: 21396429
[TBL] [Abstract][Full Text] [Related]
11. [Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].
Sun H; Zhang Y; Liu X; Ma X; Wu H; Xu K; Qin J; Qi Y; Wu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Apr; 26(2):121-7. PubMed ID: 19350499
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].
Siegler Z; Neuwirth M; Hegyi M; Paraicz E; Pálmafy B; Tegzes A; Barsi P; Karcagi V; Claes L; De Jonghe P; Herczegfalvi A; Fogarasi A
Ideggyogy Sz; 2008 Nov; 61(11-12):402-8. PubMed ID: 19070316
[TBL] [Abstract][Full Text] [Related]
14. A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.
Fendri-Kriaa N; Boujilbene S; Kammoun F; Mkaouar-Rebai E; Ben Mahmoud A; Hsairi I; Rebai A; Triki C; Fakhfakh F
Biochem Biophys Res Commun; 2011 May; 408(4):654-7. PubMed ID: 21531204
[TBL] [Abstract][Full Text] [Related]
15. Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.
Rilstone JJ; Coelho FM; Minassian BA; Andrade DM
Epilepsia; 2012 Aug; 53(8):1421-8. PubMed ID: 22780858
[TBL] [Abstract][Full Text] [Related]
16. A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
Kimura K; Sugawara T; Mazaki-Miyazaki E; Hoshino K; Nomura Y; Tateno A; Hachimori K; Yamakawa K; Segawa M
Brain Dev; 2005 Sep; 27(6):424-30. PubMed ID: 16122630
[TBL] [Abstract][Full Text] [Related]
17. Molecular genetics of Dravet syndrome.
De Jonghe P
Dev Med Child Neurol; 2011 Apr; 53 Suppl 2():7-10. PubMed ID: 21504425
[TBL] [Abstract][Full Text] [Related]
18. Early clinical features in Dravet syndrome patients with and without SCN1A mutations.
Petrelli C; Passamonti C; Cesaroni E; Mei D; Guerrini R; Zamponi N; Provinciali L
Epilepsy Res; 2012 Mar; 99(1-2):21-7. PubMed ID: 22071555
[TBL] [Abstract][Full Text] [Related]
19. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Depienne C; Trouillard O; Saint-Martin C; Gourfinkel-An I; Bouteiller D; Carpentier W; Keren B; Abert B; Gautier A; Baulac S; Arzimanoglou A; Cazeneuve C; Nabbout R; LeGuern E
J Med Genet; 2009 Mar; 46(3):183-91. PubMed ID: 18930999
[TBL] [Abstract][Full Text] [Related]
20. Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
Shi X; Yasumoto S; Nakagawa E; Fukasawa T; Uchiya S; Hirose S
Brain Dev; 2009 Nov; 31(10):758-62. PubMed ID: 19783390
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]