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Journal Abstract Search

175 related items for PubMed ID: 30813219

  • 1. Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.
    Huang Q, Yu L, Ma M, Qi H, Wu Y.
    Medicine (Baltimore); 2019 Feb; 98(8):e14698. PubMed ID: 30813219
    [Abstract] [Full Text] [Related]

  • 2. The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
    Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC.
    Epileptic Disord; 2020 Oct 01; 22(5):563-570. PubMed ID: 33000761
    [Abstract] [Full Text] [Related]

  • 3. [Phenotype study of SCN2A gene related epilepsy].
    Zeng Q, Zhang YH, Yang XL, Zhang J, Liu AJ, Liu XY, Jiang YW, Wu XR.
    Zhonghua Er Ke Za Zhi; 2018 Jul 02; 56(7):518-523. PubMed ID: 29996185
    [Abstract] [Full Text] [Related]

  • 4. SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.
    Su DJ, Lu JF, Lin LJ, Liang JS, Hung KL.
    Brain Dev; 2018 Sep 02; 40(8):724-727. PubMed ID: 29625812
    [Abstract] [Full Text] [Related]

  • 5. The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.
    Liang JS, Lin LJ, Yang MT, Wang JS, Lu JF.
    Brain Dev; 2017 Nov 02; 39(10):877-881. PubMed ID: 28709814
    [Abstract] [Full Text] [Related]

  • 6. Ketogenic diet as a successful early treatment modality for SCN2A mutation.
    Turkdogan D, Thomas G, Demirel B.
    Brain Dev; 2019 Apr 02; 41(4):389-391. PubMed ID: 30415926
    [Abstract] [Full Text] [Related]

  • 7. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
    Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UBS.
    J Neurol; 2016 Feb 02; 263(2):334-343. PubMed ID: 26645390
    [Abstract] [Full Text] [Related]

  • 8. Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.
    Melikishvili G, Dulac O, Gataullina S.
    Epilepsy Behav; 2020 Oct 02; 111():107187. PubMed ID: 32603808
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. [Clinical and genetic spectrum of SCN2A gene associated epilepsy and episodic ataxia].
    Guan J, Du KX, Dong Y, Li L, Song PP, Gong H, Zhang XL, Jia TM.
    Zhonghua Er Ke Za Zhi; 2022 Jan 02; 60(1):51-55. PubMed ID: 34986624
    [Abstract] [Full Text] [Related]

  • 12. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
    Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Gnidovec Strazisar B, Hirabayashi S, Chitayat D, Myles Reid D, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Matsumoto N, Saitsu H.
    Neurology; 2013 Sep 10; 81(11):992-8. PubMed ID: 23935176
    [Abstract] [Full Text] [Related]

  • 13. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
    Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE.
    Neurology; 2010 Oct 19; 75(16):1454-8. PubMed ID: 20956790
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 54(3):425-36. PubMed ID: 23360469
    [Abstract] [Full Text] [Related]

  • 17. Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.
    Kong Y, Yan K, Hu L, Wang M, Dong X, Lu Y, Wu B, Wang H, Yang L, Zhou W.
    Clin Chim Acta; 2018 Aug 15; 483():14-19. PubMed ID: 29649454
    [Abstract] [Full Text] [Related]

  • 18. Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity.
    Maksemous N, Smith RA, Sutherland HG, Sampaio H, Griffiths LR.
    Int J Mol Sci; 2018 Oct 11; 19(10):. PubMed ID: 30314295
    [Abstract] [Full Text] [Related]

  • 19. Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.
    Suddaby JS, Silver J, So J.
    Psychiatr Genet; 2019 Jun 11; 29(3):91-94. PubMed ID: 30741786
    [Abstract] [Full Text] [Related]

  • 20. SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
    Zeng Q, Yang Y, Duan J, Niu X, Chen Y, Wang D, Zhang J, Chen J, Yang X, Li J, Yang Z, Jiang Y, Liao J, Zhang Y.
    Front Mol Neurosci; 2022 Jun 11; 15():809951. PubMed ID: 35431799
    [Abstract] [Full Text] [Related]

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