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MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Trivisano, Marina; De Dominicis, Angela; Micalizzi, Alessia; Ferretti, Alessandro; Dentici, Maria Lisa; Terracciano, Alessandra; Calabrese, Costanza; Vigevano, Federico; Novelli, Giuseppe; Novelli, Antonio; Specchio, Nicola.
Afiliação
  • Trivisano M; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy. Electronic address: marina.trivisano@opbg.net.
  • De Dominicis A; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome 00133 Italy; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Micalizzi A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Ferretti A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.
  • Dentici ML; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Terracciano A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Calabrese C; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.
  • Vigevano F; Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.
  • Novelli G; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome 00133 Italy; Department of Pharmacology, School of Medicine, University of Nevada, Reno, NV 89557, United States.
  • Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Specchio N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.
Seizure ; 101: 211-217, 2022 Oct.
Article em En | MEDLINE | ID: mdl-36087421
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Epilepsia / Transtorno do Espectro Autista / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Epilepsia / Transtorno do Espectro Autista / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article