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Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis.
Mancardi, Maria Margherita; Nesti, Claudia; Febbo, Francesca; Cordani, Ramona; Siri, Laura; Nobili, Lino; Lampugnani, Elisabetta; Giacomini, Thea; Granata, Tiziana; Marucci, Gianluca; Consales, Alessandro; Rossi, Andrea; Luria, Gianvittorio; Santorelli, Filippo Maria; Buratti, Silvia.
Afiliação
  • Mancardi MM; Unit of Child Neuropsichiatry, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini, Genoa, Italy. Electronic address: margheritamancardi@gaslini.org.
  • Nesti C; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Febbo F; Neonatal and Pediatric Intensive Care Unit, Department of Critical Care, IRCCS Giannina Gaslini, Genova, Italy.
  • Cordani R; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
  • Siri L; Unit of Child Neuropsichiatry, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini, Genoa, Italy.
  • Nobili L; Unit of Child Neuropsichiatry, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
  • Lampugnani E; Neonatal and Pediatric Intensive Care Unit, Department of Critical Care, IRCCS Giannina Gaslini, Genova, Italy.
  • Giacomini T; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
  • Granata T; Department of Pediatric Neuroscience, Istituto Neurologico Carlo Besta, Milan, Italy.
  • Marucci G; Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Consales A; Unit of Neurosurgery, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini, Genoa, Italy.
  • Rossi A; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy.
  • Luria G; Department of Mathematics (DIMA), University of Genoa, Genoa, Italy.
  • Santorelli FM; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Buratti S; Neonatal and Pediatric Intensive Care Unit, Department of Critical Care, IRCCS Giannina Gaslini, Genova, Italy.
Brain Dev ; 43(5): 644-651, 2021 May.
Article em En | MEDLINE | ID: mdl-33485697
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Doenças Mitocondriais / Dinaminas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Doenças Mitocondriais / Dinaminas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article