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Journal Abstract Search

431 related items for PubMed ID: 32400968

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  • 8. Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
    Mao M, Mattei C, Rollo B, Byars S, Cuddy C, Berecki G, Heighway J, Pachernegg S, Menheniott T, Apted D, Jia L, Dalby K, Nemiroff A, Mullen S, Reid CA, Maljevic S, Petrou S.
    J Neurosci; 2024 Feb 21; 44(8):. PubMed ID: 38148154
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  • 9. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
    Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D.
    Epilepsia; 2020 Mar 21; 61(3):387-399. PubMed ID: 32090326
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  • 10. [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-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects.
    Yang XR, Ginjupalli VKM, Theriault O, Poulin H, Appendino JP, Au PYB, Chahine M.
    J Neurophysiol; 2022 May 01; 127(5):1388-1397. PubMed ID: 35417276
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  • 14. Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy.
    Ganguly S, Thompson CH, George AL.
    J Physiol; 2021 Sep 01; 599(18):4375-4388. PubMed ID: 34287911
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  • 15. Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.
    Dilena R, Striano P, Gennaro E, Bassi L, Olivotto S, Tadini L, Mosca F, Barbieri S, Zara F, Fumagalli M.
    Brain Dev; 2017 Apr 01; 39(4):345-348. PubMed ID: 27876397
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  • 16. Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.
    Melikishvili G, Dulac O, Gataullina S.
    Epilepsy Behav; 2020 Oct 01; 111():107187. PubMed ID: 32603808
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  • 17. Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.
    Berecki G, Tao E, Howell KB, Coorg RK, Andersen E, Kahlig K, Wolff M, Corry B, Petrou S.
    Brain; 2024 Jun 28. PubMed ID: 38939966
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  • 18. 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 28; 60 Suppl 3():S59-S67. PubMed ID: 31904126
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  • 19. 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 28; 39(10):877-881. PubMed ID: 28709814
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  • 20. CaMKII modulates sodium current in neurons from epileptic Scn2a mutant mice.
    Thompson CH, Hawkins NA, Kearney JA, George AL.
    Proc Natl Acad Sci U S A; 2017 Feb 14; 114(7):1696-1701. PubMed ID: 28137877
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