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Clinical letter| Volume 105, P14-16, February 2023

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Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy

  • Author Footnotes
    1 These authors contributed equally to this work.
    Marco Perulli
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy
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  • Author Footnotes
    1 These authors contributed equally to this work.
    Maria Picilli
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy
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  • Ilaria Contaldo
    Affiliations
    Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
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  • Simona Amenta
    Affiliations
    Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy
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  • Maria Luigia Gambardella
    Affiliations
    Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
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  • Michela Quintiliani
    Affiliations
    Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
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  • Elisa Musto
    Affiliations
    Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy
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  • Ida Turrini
    Affiliations
    Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy
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  • Chiara Veredice
    Affiliations
    Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
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  • Author Footnotes
    1 These authors contributed equally to this work.
    Marcella Zollino
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Telethon Institute of Genetics and Medicine (TIGEM) Pozzuoli, Naples, Italy

    Genomic Medicine, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy
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  • Author Footnotes
    1 These authors contributed equally to this work.
    Domenica Immacolata Battaglia
    Correspondence
    Corresponding author at: Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Francesco Vito, 1, 00168 Rome, Italy.
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy
    Search for articles by this author
  • Author Footnotes
    1 These authors contributed equally to this work.
Published:January 03, 2023DOI:https://doi.org/10.1016/j.seizure.2023.01.001
      Mutations in the PACS2 gene are responsible for neonatal-onset developmental and epileptic encephalopathy, mild facial dysmorphisms, and cerebellar dysgenesis with folia abnormalities [
      • Olson H.E.
      • Jean-Marçais N.
      • Yang E.
      • et al.
      A recurrent De Novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis.
      ].

      Keywords

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      References

        • Olson H.E.
        • Jean-Marçais N.
        • Yang E.
        • et al.
        A recurrent De Novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis.
        Am J Hum Genet. 2018; 102: 995-1007https://doi.org/10.1016/j.ajhg.2018.03.005
        • Dentici M.L.
        • Barresi S.
        • Niceta M.
        • et al.
        Expanding the clinical spectrum associated with PACS2 mutations.
        Clin Genet. 2019; 95: 525-531https://doi.org/10.1111/cge.13516
        • Terrone G.
        • Marchese F.
        • Vari M.S.
        • et al.
        A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.
        Seizure. 2020; 79: 53-55https://doi.org/10.1016/j.seizure.2020.05.001
        • Mizuno T.
        • Miyata R.
        • Hojo A.
        • et al.
        Clinical variations of epileptic syndrome associated with PACS2 variant.
        Brain Dev. 2021; 43: 343-347https://doi.org/10.1016/j.braindev.2020.10.006
        • Sánchez-Soler M.J.
        • Serrano-Antón A.T.
        • López-González V.
        • Guillén-Navarro E.
        New case with the recurrent c.635G>A pathogenic variant in the PACS2 gene: expanding the phenotype.
        Neurologia. 2021; (xxxx): 2-4https://doi.org/10.1016/j.nrl.2020.11.009
        • Cesaroni E.
        • Matricardi S.
        • Cappanera S.
        • Marini C.
        First reported case of an inherited PACS2 pathogenic variant with variable expression.
        Epileptic Disord. 2022; 28 (Published online February)https://doi.org/10.1684/EPD.2022.1417
        • Valenzuela I.
        • Guillén Benítez E.
        • Sanchez-Montanez A.
        • et al.
        Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
        Am J Med Genet A. 2022; 188: 991-995https://doi.org/10.1002/ajmg.a.62596
        • Sakaguchi Y.
        • Yoshihashi H.
        • Uehara T.
        • Miyama S.
        • Kosaki K.
        • Takenouchi T.
        Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
        Am J Med Genet A. 2021; 185: 884-888https://doi.org/10.1002/ajmg.a.62020
        • Jiao X.
        • Gong P.
        • Niu Y.
        • Zhang Y.
        • Yang Z.
        A rare presentation characterized by epileptic spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP deficiency.
        Front Genet. 2022; 13: 1-10https://doi.org/10.3389/fgene.2022.804461
        • Chen J.
        • Tao Q.
        • Fan L.
        • et al.
        Pyridoxine-responsive KCNQ2 epileptic encephalopathy: additional cases and literature review.
        Mol Genet Genomic Med. 2022; 10: 1-7https://doi.org/10.1002/mgg3.2024
        • Atkins K.M.
        • Thomas L.L.
        • Barroso-Gonzalez J.
        • et al.
        The multifunctional sorting protein PACS-2 regulates SIRT1-mediated deacetylation of p53 to modulate p21-dependent cell-cycle arrest.
        Cell Rep. 2014; 8: 1545-1557https://doi.org/10.1016/j.celrep.2014.07.049
        • Zhang P.
        • Suidasari S.
        • Hasegawa T.
        • Yanaka N.
        • Kato N.
        Vitamin B6 activates p53 and elevates p21 gene expression in cancer cells and the mouse colon.
        Oncol Rep. 2014; 31: 2371-2376https://doi.org/10.3892/or.2014.3073