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Journal Abstract Search

450 related items for PubMed ID: 27112236

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  • 24. 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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  • 28. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
    Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A.
    Hum Mol Genet; 2007 Dec 01; 16(23):2892-9. PubMed ID: 17881658
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  • 30. Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.
    Berg AT, Thompson CH, Myers LS, Anderson E, Evans L, Kaiser AJE, Paltell K, Nili AN, DeKeyser JL, Abramova TV, Nesbitt G, Egan SM, Vanoye CG, George AL.
    Brain; 2024 Aug 01; 147(8):2761-2774. PubMed ID: 38651838
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  • 35. Lacosamide for SCN2A-related intractable neonatal and infantile seizures.
    Flor-Hirsch H, Heyman E, Livneh A, Reish O, Watemberg N, Litmanovits I, Ben Sason Lilli A, Lev D, Lerman Sagie T, Bassan H.
    Epileptic Disord; 2018 Oct 01; 20(5):440-446. PubMed ID: 30361185
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  • 36. Expanded alternative splice isoform profiling of the mouse Cav3.1/alpha1G T-type calcium channel.
    Ernst WL, Noebels JL.
    BMC Mol Biol; 2009 May 29; 10():53. PubMed ID: 19480703
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  • 38. 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 29; 39(10):877-881. PubMed ID: 28709814
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  • 39. 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 29; 14(10):1153-66. PubMed ID: 23859570
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  • 40. 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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