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Journal Abstract Search

126 related items for PubMed ID: 21416599

  • 1. An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.
    Raymond G, Wohler E, Dinsmore C, Cox J, Johnston M, Batista D, Wang T.
    Am J Med Genet A; 2011 Apr; 155A(4):920-3. PubMed ID: 21416599
    [No Abstract] [Full Text] [Related]

  • 2. Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A.
    Vecchi M, Cassina M, Casarin A, Rigon C, Drigo P, De Palma L, Clementi M.
    Seizure; 2011 Dec; 20(10):813-6. PubMed ID: 21893419
    [Abstract] [Full Text] [Related]

  • 3. Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3.
    Okumura A, Yamamoto T, Shimojima K, Honda Y, Abe S, Ikeno M, Shimizu T.
    Epilepsia; 2011 Jul; 52(7):e66-9. PubMed ID: 21692795
    [Abstract] [Full Text] [Related]

  • 4. Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.
    Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR.
    Epilepsia; 2012 Dec; 53(12):2128-34. PubMed ID: 23016767
    [Abstract] [Full Text] [Related]

  • 5. Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.
    Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC.
    Epilepsia; 2010 Sep; 51(9):1865-9. PubMed ID: 20384724
    [Abstract] [Full Text] [Related]

  • 6. Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures.
    Celle ME, Cuoco C, Porta S, Gimelli G, Tassano E.
    Gene; 2013 Dec 15; 532(2):294-6. PubMed ID: 24080482
    [Abstract] [Full Text] [Related]

  • 7. Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.
    Thuresson AC, Van Buggenhout G, Sheth F, Kamate M, Andrieux J, Clayton Smith J, Soussi Zander C.
    Clin Genet; 2017 Jan 15; 91(1):106-110. PubMed ID: 27153334
    [Abstract] [Full Text] [Related]

  • 8. Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.
    Chen CP, Lin SP, Chern SR, Chen YJ, Tsai FJ, Wu PC, Wang W.
    Eur J Med Genet; 2010 Jan 15; 53(4):217-20. PubMed ID: 20346423
    [Abstract] [Full Text] [Related]

  • 9. Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications.
    Yoshitomi S, Takahashi Y, Ishizuka M, Yamaguchi T, Watanabe A, Nasu H, Ueda Y, Ohtani H, Ikeda H, Imai K, Shigematsu H, Inoue Y, Tanahashi Y, Aiba K, Ohta H, Shimada S, Yamamoto T.
    Brain Dev; 2015 Oct 15; 37(9):874-9. PubMed ID: 25843248
    [Abstract] [Full Text] [Related]

  • 10. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?
    Lim BC, Hwang H, Kim H, Chae JH, Choi J, Kim KJ, Hwang YS, Yum MS, Ko TS.
    Epilepsy Res; 2015 Jan 15; 109():34-9. PubMed ID: 25524840
    [Abstract] [Full Text] [Related]

  • 11. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.
    Krepischi AC, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C.
    Epilepsia; 2010 Dec 15; 51(12):2457-60. PubMed ID: 21204806
    [Abstract] [Full Text] [Related]

  • 12. SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.
    Haerian BS, Baum L, Kwan P, Tan HJ, Raymond AA, Mohamed Z.
    Pharmacogenomics; 2013 Jul 15; 14(10):1153-66. PubMed ID: 23859570
    [Abstract] [Full Text] [Related]

  • 13. Duane syndrome in the setting of chromosomal duplications.
    Smith SB, Traboulsi EI.
    Am J Ophthalmol; 2010 Dec 15; 150(6):932-8. PubMed ID: 20933218
    [Abstract] [Full Text] [Related]

  • 14. SCN1A mutations and epilepsy.
    Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA.
    Hum Mutat; 2005 Jun 15; 25(6):535-42. PubMed ID: 15880351
    [Abstract] [Full Text] [Related]

  • 15. Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures.
    Bartnik M, Chun-Hui Tsai A, Xia Z, Cheung SW, Stankiewicz P.
    Clin Genet; 2011 Aug 15; 80(2):191-5. PubMed ID: 20807223
    [Abstract] [Full Text] [Related]

  • 16. Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24.
    Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, Jabs EW, Korenberg JR, Ingram VM.
    Cytogenet Cell Genet; 1994 Aug 15; 67(3):178-86. PubMed ID: 8062593
    [Abstract] [Full Text] [Related]

  • 17. Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
    Møller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tümer Z.
    Epilepsia; 2008 Jun 15; 49(6):1091-4. PubMed ID: 18294202
    [Abstract] [Full Text] [Related]

  • 18. Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring.
    Domínguez MG, Rivera H, Aguilar-Lemarroy A, Jave-Suarez LF, Ramírez-Velazco A, González-Ramos IA, Barros-Núñez P, Partida-Pérez M, Gutiérrez-Amavizca BE, Brambila-Tapia AJ, Figuera LE.
    Clin Dysmorphol; 2017 Oct 15; 26(4):209-216. PubMed ID: 28737552
    [Abstract] [Full Text] [Related]

  • 19. Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences.
    Martin MS, Tang B, Ta N, Escayg A.
    Genomics; 2007 Aug 15; 90(2):225-35. PubMed ID: 17544618
    [Abstract] [Full Text] [Related]

  • 20. Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31.
    Malo MS, Srivastava K, Andresen JM, Chen XN, Korenberg JR, Ingram VM.
    Proc Natl Acad Sci U S A; 1994 Apr 12; 91(8):2975-9. PubMed ID: 8159690
    [Abstract] [Full Text] [Related]

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