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Journal Abstract Search

285 related items for PubMed ID: 24814476

  • 1. 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; 18(5):567-71. PubMed ID: 24814476
    [Abstract] [Full Text] [Related]

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

  • 3. 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]

  • 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
    [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 15; 39(10):877-881. PubMed ID: 28709814
    [Abstract] [Full Text] [Related]

  • 6. [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]

  • 7. [Autism spectrum disorder/development delay in siblings with SCN2A mutations caused by germline mosaicism].
    Zhang P, Gao Z, Jia J, Chen Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov 10; 38(11):1097-1100. PubMed ID: 34729751
    [Abstract] [Full Text] [Related]

  • 8. Ketogenic diet as a successful early treatment modality for SCN2A mutation.
    Turkdogan D, Thomas G, Demirel B.
    Brain Dev; 2019 Apr 10; 41(4):389-391. PubMed ID: 30415926
    [Abstract] [Full Text] [Related]

  • 9. Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
    Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Coeslier AD, Dailland T, Lesca G, Philip N, Villard L.
    Am J Med Genet A; 2015 Oct 10; 167A(10):2314-8. PubMed ID: 25959266
    [Abstract] [Full Text] [Related]

  • 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 10; 40(8):724-727. PubMed ID: 29625812
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.
    Sampaio M, Rocha R, Biskup S, Leão M.
    J Child Neurol; 2015 Apr 01; 30(5):622-4. PubMed ID: 23533165
    [Abstract] [Full Text] [Related]

  • 13. Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.
    Ortega-Moreno L, Giráldez BG, Verdú A, García-Campos O, Sánchez-Martín G, Serratosa JM, Guerrero-López R.
    Neurologia; 2016 Oct 01; 31(8):523-7. PubMed ID: 25631041
    [Abstract] [Full Text] [Related]

  • 14. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
    Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H.
    Epilepsia; 2013 Jul 01; 54(7):1282-7. PubMed ID: 23621294
    [Abstract] [Full Text] [Related]

  • 15. Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.
    Kato T, Morisada N, Nagase H, Nishiyama M, Toyoshima D, Nakagawa T, Maruyama A, Fu XJ, Nozu K, Wada H, Takada S, Iijima K.
    Brain Dev; 2015 Oct 01; 37(9):911-5. PubMed ID: 25819767
    [Abstract] [Full Text] [Related]

  • 16. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
    Zhou P, He N, Zhang JW, Lin ZJ, Wang J, Yan LM, Meng H, Tang B, Li BM, Liu XR, Shi YW, Zhai QX, Yi YH, Liao WP.
    Genes Brain Behav; 2018 Nov 01; 17(8):e12456. PubMed ID: 29314583
    [Abstract] [Full Text] [Related]

  • 17. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
    Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M.
    Epilepsia; 2015 Dec 01; 56(12):1931-40. PubMed ID: 26514728
    [Abstract] [Full Text] [Related]

  • 18. Confirming an expanded spectrum of SCN2A mutations: a case series.
    Matalon D, Goldberg E, Medne L, Marsh ED.
    Epileptic Disord; 2014 Mar 01; 16(1):13-8. PubMed ID: 24659627
    [Abstract] [Full Text] [Related]

  • 19. Paternal mosaicism of an STXBP1 mutation in OS.
    Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N.
    Clin Genet; 2011 Nov 01; 80(5):484-8. PubMed ID: 21062273
    [Abstract] [Full Text] [Related]

  • 20. A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
    Romaniello R, Zucca C, Tenderini E, Arrigoni F, Ragona F, Zorzi G, Bassi MT, Borgatti R.
    J Child Neurol; 2014 Feb 01; 29(2):249-53. PubMed ID: 24170257
    [Abstract] [Full Text] [Related]

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