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Journal Abstract Search

479 related items for PubMed ID: 28709814

  • 1. 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; 39(10):877-881. PubMed ID: 28709814
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  • 2. [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
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  • 3. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
    Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.
    Epilepsia; 2014 Apr 02; 55(4):e25-9. PubMed ID: 24579881
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  • 4. 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
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  • 6. 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
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  • 8. Ketogenic diet as a successful early treatment modality for SCN2A mutation.
    Turkdogan D, Thomas G, Demirel B.
    Brain Dev; 2019 Apr 01; 41(4):389-391. PubMed ID: 30415926
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  • 10. 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 01; 40(8):724-727. PubMed ID: 29625812
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  • 11. Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
    Saitoh M, Ishii A, Ihara Y, Hoshino A, Terashima H, Kubota M, Kikuchi K, Yamanaka G, Amemiya K, Hirose S, Mizuguchi M.
    Epilepsy Res; 2015 Nov 01; 117():1-6. PubMed ID: 26311622
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  • 12. Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
    Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, Joset P, Papuc S, Rauch A, Plecko B.
    Neuropediatrics; 2014 Aug 01; 45(4):261-4. PubMed ID: 24710820
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  • 13. Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.
    Zerem A, Lev D, Blumkin L, Goldberg-Stern H, Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T.
    Eur J Paediatr Neurol; 2014 Sep 01; 18(5):567-71. PubMed ID: 24814476
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  • 15. 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
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