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Journal Abstract Search

195 related items for PubMed ID: 21893419

  • 1. 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
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  • 2. 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
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  • 4. 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 15; 51(9):1865-9. PubMed ID: 20384724
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  • 6. 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
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  • 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
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  • 8. Confirming an expanded spectrum of SCN2A mutations: a case series.
    Matalon D, Goldberg E, Medne L, Marsh ED.
    Epileptic Disord; 2014 Mar 15; 16(1):13-8. PubMed ID: 24659627
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  • 9. 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 15; 155A(4):920-3. PubMed ID: 21416599
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  • 10. 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
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  • 11. 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 15; 53(12):2128-34. PubMed ID: 23016767
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  • 12. 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 15; 52(7):e66-9. PubMed ID: 21692795
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  • 13. Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
    Shi YW, Yu MJ, Long YS, Qin B, He N, Meng H, Liu XR, Deng WY, Gao MM, Yi YH, Li BM, Liao WP.
    Genes Brain Behav; 2012 Mar 15; 11(2):170-6. PubMed ID: 22151702
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  • 14. 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
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  • 15. 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
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  • 16. 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 15; 50(7):1670-8. PubMed ID: 19400878
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