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Journal Abstract Search

215 related items for PubMed ID: 28589569

  • 1. Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
    Yoshida M, Nakashima M, Okanishi T, Kanai S, Fujimoto A, Itomi K, Morimoto M, Saitsu H, Kato M, Matsumoto N, Chiyonobu T.
    Clin Genet; 2018 Feb; 93(2):368-373. PubMed ID: 28589569
    [Abstract] [Full Text] [Related]

  • 2. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
    Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE.
    Epilepsia; 2021 Jan; 62(1):e13-e21. PubMed ID: 33280099
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  • 3. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
    Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T.
    Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
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  • 4. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
    Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME, DDD Study, Fisher SE, Logan DW.
    Am J Hum Genet; 2016 Aug 04; 99(2):253-74. PubMed ID: 27453576
    [Abstract] [Full Text] [Related]

  • 5. A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.
    Murthy MC, Banerjee B, Shetty M, Mariappan M, Sekhsaria A.
    Epileptic Disord; 2024 Oct 04; 26(5):609-625. PubMed ID: 38923778
    [Abstract] [Full Text] [Related]

  • 6. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
    Jiang X, Raju PK, D'Avanzo N, Lachance M, Pepin J, Dubeau F, Mitchell WG, Bello-Espinosa LE, Pierson TM, Minassian BA, Lacaille JC, Rossignol E.
    Epilepsia; 2019 Sep 04; 60(9):1881-1894. PubMed ID: 31468518
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  • 8. Epileptic encephalopathy as models of system epilepsy.
    Capovilla G, Moshé SL, Wolf P, Avanzini G.
    Epilepsia; 2013 Nov 04; 54 Suppl 8():34-7. PubMed ID: 24571115
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  • 9. Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
    Zhang J, Liu X, Zhu G, Wan L, Liang Y, Li N, Huang M, Yang G.
    Brain Behav; 2024 May 04; 14(5):e3535. PubMed ID: 38773790
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  • 14. Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.
    Wessels MW, Cnossen MH, van Dijk TB, Gillemans N, Schmidt KLJ, van Lom K, Vinjamur DS, Coyne S, Kurita R, Nakamura Y, de Man SA, Pfundt R, Azmani Z, Brouwer RWW, Bauer DE, van den Hout MCGN, van IJcken WFJ, Philipsen S.
    Blood Adv; 2021 May 11; 5(9):2339-2349. PubMed ID: 33938942
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  • 15. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
    Shoubridge C, Jackson M, Grinton B, Berkovic SF, Scheffer IE, Huskins S, Thomas A, Ware T.
    Am J Med Genet A; 2019 Aug 11; 179(8):1483-1490. PubMed ID: 31145546
    [Abstract] [Full Text] [Related]

  • 16. Identification of novel BCL11A variant in a patient with developmental delay and behavioural differences.
    Zha J, Chen Y, Cao F, Zhong J, Yu X, Wu H.
    Int J Dev Neurosci; 2024 Nov 11; 84(7):727-734. PubMed ID: 39187446
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  • 17. A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.
    Korenke GC, Schulte B, Biskup S, Neidhardt J, Owczarek-Lipska M.
    Mol Syndromol; 2020 Jul 11; 11(3):135-140. PubMed ID: 32903878
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  • 18. Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
    Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, Lagae L, Milh M, Mathieu ML, Minassian BA, Novelli A, Pietrafusa N, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Cooper GM, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Scheffer IE, Specchio N.
    Epilepsia; 2020 Jul 11; 61(7):e71-e78. PubMed ID: 32645220
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  • 19. De novo mutations in epileptic encephalopathies.
    Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR.
    Nature; 2013 Sep 12; 501(7466):217-21. PubMed ID: 23934111
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  • 20. BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
    Soblet J, Dimov I, Graf von Kalckreuth C, Cano-Chervel J, Baijot S, Pelc K, Sottiaux M, Vilain C, Smits G, Deconinck N.
    Am J Med Genet A; 2018 Jan 12; 176(1):201-208. PubMed ID: 28960836
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