Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion
Author:
Funder
Russian Foundation for Basic Research
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-023-02564-y.pdf
Reference38 articles.
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2. Anwar A, Saleem S, Patel UK, Arumaithurai K, Malik P (2019) Dravet syndrome: an overview. Cureus 11:e5006. https://doi.org/10.7759/cureus.5006
3. Baralle M, Skoko N, Knezevich A, De Conti L, Motti D, Bhuvanagiri M, Baralle D, Buratti E, Baralle FE (2006) NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Lett 580:4449–4456. https://doi.org/10.1016/j.febslet.2006.07.018
4. Carvill GL, Mefford HC (2020) Poison exons in neurodevelopment and disease. Curr Opin Genet Dev 65:98–102. https://doi.org/10.1016/j.gde.2020.05.030
5. Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J, EuroEpinomics Rare Epilepsy Syndrome M-AE, Dravet Working G, Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC (2018) Aberrant inclusion of a poison exon causes dravet syndrome and related SCN1A-associated genetic epilepsies. Am J Hum Genet 103:1022–1029. https://doi.org/10.1016/j.ajhg.2018.10.023
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