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Journal Abstract Search

1400 related items for PubMed ID: 24579881

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  • 3. 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; 45(4):261-4. PubMed ID: 24710820
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  • 5. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
    Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.
    Epilepsia; 2014 Jul; 55(7):994-1000. PubMed ID: 24888894
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  • 6. Confirming an expanded spectrum of SCN2A mutations: a case series.
    Matalon D, Goldberg E, Medne L, Marsh ED.
    Epileptic Disord; 2014 Mar; 16(1):13-8. PubMed ID: 24659627
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  • 8. 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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  • 12. [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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  • 16. Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.
    Bernardo S, Marchionni E, Prudente S, De Liso P, Spalice A, Giancotti A, Manganaro L, Pizzuti A.
    Eur J Paediatr Neurol; 2017 May 02; 21(3):587-590. PubMed ID: 28254201
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  • 17. Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
    Yi Z, Zhang Y, Song Z, Pan H, Yang C, Li F, Xue J, Qu Z.
    Ital J Pediatr; 2020 Jul 09; 46(1):95. PubMed ID: 32646507
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  • 19. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
    Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels RJ, Meisler MH, Kamsteeg EJ.
    J Med Genet; 2015 May 09; 52(5):330-7. PubMed ID: 25725044
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