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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Orlando, Valeria; Di Tommaso, Silvia; Alesi, Viola; Loddo, Sara; Genovese, Silvia; Catino, Giorgia; Martucci, Licia; Roberti, Maria Cristina; Trivisano, Marina; Dentici, Maria Lisa; Specchio, Nicola; Dallapiccola, Bruno; Ferretti, Alessandro; Novelli, Antonio.
Afiliação
  • Orlando V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Di Tommaso S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Loddo S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Genovese S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Martucci L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Roberti MC; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Trivisano M; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Dentici ML; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Specchio N; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Dallapiccola B; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Ferretti A; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Novelli A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Int J Mol Sci ; 23(21)2022 Oct 26.
Article em En | MEDLINE | ID: mdl-36361691
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Encefalopatias / Aberrações Cromossômicas Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Encefalopatias / Aberrações Cromossômicas Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália