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Journal Abstract Search

1397 related items for PubMed ID: 28379373

  • 41. 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; 55(4):e25-9. PubMed ID: 24579881
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  • 42. Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
    Berecki G, Howell KB, Deerasooriya YH, Cilio MR, Oliva MK, Kaplan D, Scheffer IE, Berkovic SF, Petrou S.
    Proc Natl Acad Sci U S A; 2018 Jun 12; 115(24):E5516-E5525. PubMed ID: 29844171
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  • 43. [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
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  • 44. Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.
    Hawkins NA, Kearney JA.
    Epilepsy Res; 2016 Jan 02; 119():20-3. PubMed ID: 26656780
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  • 45. 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 02; 45(4):261-4. PubMed ID: 24710820
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  • 46. Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
    Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap JJ, George AL.
    J Gen Physiol; 2023 Oct 02; 155(10):. PubMed ID: 37578743
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  • 47. 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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  • 48. Progress in Understanding and Treating SCN2A-Mediated Disorders.
    Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ.
    Trends Neurosci; 2018 Jul 08; 41(7):442-456. PubMed ID: 29691040
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  • 50. Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
    Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S, Epilepsy Genetic Study Group Japan.
    Epilepsy Res; 2012 Dec 08; 102(3):195-200. PubMed ID: 23195492
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  • 51. Genetic and clinical features of SCN8A developmental and epileptic encephalopathy.
    Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC.
    Epilepsy Res; 2019 Dec 08; 158():106222. PubMed ID: 31675620
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  • 52. Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.
    Holland KD, Bouley TM, Horn PS.
    Epilepsia; 2017 Jul 08; 58(7):1190-1198. PubMed ID: 28518218
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  • 57. 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 08; 98(8):e14698. PubMed ID: 30813219
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  • 60. 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 08; 14(10):1153-66. PubMed ID: 23859570
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