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Journal Abstract Search

321 related items for PubMed ID: 24710820

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  • 3. 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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  • 5. An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.
    Lauxmann S, Boutry-Kryza N, Rivier C, Mueller S, Hedrich UB, Maljevic S, Szepetowski P, Lerche H, Lesca G.
    Epilepsia; 2013 Sep; 54(9):e117-21. PubMed ID: 23758435
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  • 7. 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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  • 8. The phenotypic spectrum of SCN2A-related epilepsy.
    Reynolds C, King MD, Gorman KM.
    Eur J Paediatr Neurol; 2020 Jan 10; 24():117-122. PubMed ID: 31924505
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  • 9. [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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  • 11. 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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  • 13. Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
    Wolff M, Brunklaus A, Zuberi SM.
    Epilepsia; 2019 Dec 15; 60 Suppl 3():S59-S67. PubMed ID: 31904126
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  • 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 15; 54(3):425-36. PubMed ID: 23360469
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  • 15. Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.
    Que Z, Olivero-Acosta MI, Zhang J, Eaton M, Tukker AM, Chen X, Wu J, Xie J, Xiao T, Wettschurack K, Yunis L, Shafer JM, Schaber JA, Rochet JC, Bowman AB, Yuan C, Huang Z, Hu CD, Trader DJ, Skarnes WC, Yang Y.
    J Neurosci; 2021 Dec 08; 41(49):10194-10208. PubMed ID: 34716231
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  • 18. Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.
    Melikishvili G, Dulac O, Gataullina S.
    Epilepsy Behav; 2020 Oct 08; 111():107187. PubMed ID: 32603808
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  • 20. Ketogenic diet as a successful early treatment modality for SCN2A mutation.
    Turkdogan D, Thomas G, Demirel B.
    Brain Dev; 2019 Apr 08; 41(4):389-391. PubMed ID: 30415926
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