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Journal Abstract Search

261 related items for PubMed ID: 32105008

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  • 2. Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.
    Gburek-Augustat J, Beck-Woedl S, Tzschach A, Bauer P, Schoening M, Riess A.
    Eur J Paediatr Neurol; 2016 Jul; 20(4):661-5. PubMed ID: 27184330
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  • 6. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
    Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A.
    Am J Med Genet A; 2015 Sep; 167A(9):2017-25. PubMed ID: 25914188
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  • 7. Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation.
    Dilena R, Striano P, Traverso M, Viri M, Cristofori G, Tadini L, Barbieri S, Romeo A, Zara F.
    Brain Dev; 2016 Jan; 38(1):128-31. PubMed ID: 26212315
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  • 11. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.
    Kovacevic J, Maroteaux G, Schut D, Loos M, Dubey M, Pitsch J, Remmelink E, Koopmans B, Crowley J, Cornelisse LN, Sullivan PF, Schoch S, Toonen RF, Stiedl O, Verhage M.
    Brain; 2018 May 01; 141(5):1350-1374. PubMed ID: 29538625
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  • 13. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
    Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L.
    Epilepsia; 2011 Oct 01; 52(10):1828-34. PubMed ID: 21770924
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  • 15. A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
    Romaniello R, Zucca C, Tenderini E, Arrigoni F, Ragona F, Zorzi G, Bassi MT, Borgatti R.
    J Child Neurol; 2014 Feb 01; 29(2):249-53. PubMed ID: 24170257
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  • 17. [Characteristics of people with the STXBP1 syndrome in Spain: Implications for diagnosis].
    Murillo E.
    An Pediatr (Engl Ed); 2020 Feb 01; 92(2):71-78. PubMed ID: 31151759
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  • 18. Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.
    Sampaio M, Rocha R, Biskup S, Leão M.
    J Child Neurol; 2015 Apr 01; 30(5):622-4. PubMed ID: 23533165
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