314 related articles for article (PubMed ID: 15651314)
1. [Molecular genetics of epilepsy].
Yamakawa K
Rinsho Shinkeigaku; 2004 Nov; 44(11):858-60. PubMed ID: 15651314
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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; 95(12):1703-6. PubMed ID: 17129991
[TBL] [Abstract][Full Text] [Related]
6. Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy.
Ki CS; Kong SY; Seo DW; Hong SB; Kim HJ; Kim JW
J Hum Genet; 2003; 48(1):51-4. PubMed ID: 12560877
[TBL] [Abstract][Full Text] [Related]
7. Clinical spectrum of SCN2A mutations.
Shi X; Yasumoto S; Kurahashi H; Nakagawa E; Fukasawa T; Uchiya S; Hirose S
Brain Dev; 2012 Aug; 34(7):541-5. PubMed ID: 22029951
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
Osaka H; Ogiwara I; Mazaki E; Okamura N; Yamashita S; Iai M; Yamada M; Kurosawa K; Iwamoto H; Yasui-Furukori N; Kaneko S; Fujiwara T; Inoue Y; Yamakawa K
Epilepsy Res; 2007 Jun; 75(1):46-51. PubMed ID: 17507202
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
Rhodes TH; Vanoye CG; Ohmori I; Ogiwara I; Yamakawa K; George AL
J Physiol; 2005 Dec; 569(Pt 2):433-45. PubMed ID: 16210358
[TBL] [Abstract][Full Text] [Related]
13. The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain.
Ganesh S; Tsurutani N; Suzuki T; Ueda K; Agarwala KL; Osada H; Delgado-Escueta AV; Yamakawa K
Hum Mol Genet; 2003 Sep; 12(18):2359-68. PubMed ID: 12915448
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Neonatal epilepsy syndromes and GEFS+: mechanistic considerations.
Burgess DL
Epilepsia; 2005; 46 Suppl 10():51-8. PubMed ID: 16359473
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Ganesh S; Delgado-Escueta AV; Suzuki T; Francheschetti S; Riggio C; Avanzini G; Rabinowicz A; Bohlega S; Bailey J; Alonso ME; Rasmussen A; Thomson AE; Ochoa A; Prado AJ; Medina MT; Yamakawa K
Hum Mol Genet; 2002 May; 11(11):1263-71. PubMed ID: 12019207
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
Fujiwara T; Sugawara T; Mazaki-Miyazaki E; Takahashi Y; Fukushima K; Watanabe M; Hara K; Morikawa T; Yagi K; Yamakawa K; Inoue Y
Brain; 2003 Mar; 126(Pt 3):531-46. PubMed ID: 12566275
[TBL] [Abstract][Full Text] [Related]
20. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
Gómez-Garre P; Sanz Y; Rodríguez De Córdoba SR; Serratosa JM
Eur J Hum Genet; 2000 Dec; 8(12):946-54. PubMed ID: 11175283
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
