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196 related items for PubMed ID: 27153334

  • 1. 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; 91(1):106-110. PubMed ID: 27153334
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
    Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D.
    Epilepsia; 2020 Mar 15; 61(3):387-399. PubMed ID: 32090326
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 20(10):813-6. PubMed ID: 21893419
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.
    Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.
    Seizure; 2018 Aug 15; 60():91-93. PubMed ID: 29929112
    [Abstract] [Full Text] [Related]

  • 9. Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.
    Nickel K, Tebartz van Elst L, Domschke K, Gläser B, Stock F, Endres D, Maier S, Riedel A.
    BMC Psychiatry; 2018 Aug 02; 18(1):248. PubMed ID: 30071822
    [Abstract] [Full Text] [Related]

  • 10. 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 02; 51(9):1865-9. PubMed ID: 20384724
    [Abstract] [Full Text] [Related]

  • 11. SCN3A deficiency associated with increased seizure susceptibility.
    Lamar T, Vanoye CG, Calhoun J, Wong JC, Dutton SBB, Jorge BS, Velinov M, Escayg A, Kearney JA.
    Neurobiol Dis; 2017 Jun 02; 102():38-48. PubMed ID: 28235671
    [Abstract] [Full Text] [Related]

  • 12. Confirming an expanded spectrum of SCN2A mutations: a case series.
    Matalon D, Goldberg E, Medne L, Marsh ED.
    Epileptic Disord; 2014 Mar 02; 16(1):13-8. PubMed ID: 24659627
    [Abstract] [Full Text] [Related]

  • 13. 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 02; 52(7):e66-9. PubMed ID: 21692795
    [Abstract] [Full Text] [Related]

  • 14. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
    Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C.
    Epilepsia; 2013 Mar 02; 54(3):425-36. PubMed ID: 23360469
    [Abstract] [Full Text] [Related]

  • 15. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
    Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.
    Brain; 2017 May 01; 140(5):1316-1336. PubMed ID: 28379373
    [Abstract] [Full Text] [Related]

  • 16. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
    Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE.
    Neurology; 2015 Sep 15; 85(11):958-66. PubMed ID: 26291284
    [Abstract] [Full Text] [Related]

  • 17. SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects.
    Yang XR, Ginjupalli VKM, Theriault O, Poulin H, Appendino JP, Au PYB, Chahine M.
    J Neurophysiol; 2022 May 01; 127(5):1388-1397. PubMed ID: 35417276
    [Abstract] [Full Text] [Related]

  • 18. Sodium-channel defects in benign familial neonatal-infantile seizures.
    Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE.
    Lancet; 2002 Sep 14; 360(9336):851-2. PubMed ID: 12243921
    [Abstract] [Full Text] [Related]

  • 19. Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.
    Melikishvili G, Dulac O, Gataullina S.
    Epilepsy Behav; 2020 Oct 14; 111():107187. PubMed ID: 32603808
    [Abstract] [Full Text] [Related]

  • 20. Lacosamide for SCN2A-related intractable neonatal and infantile seizures.
    Flor-Hirsch H, Heyman E, Livneh A, Reish O, Watemberg N, Litmanovits I, Ben Sason Lilli A, Lev D, Lerman Sagie T, Bassan H.
    Epileptic Disord; 2018 Oct 01; 20(5):440-446. PubMed ID: 30361185
    [Abstract] [Full Text] [Related]

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