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Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi, Sara; De Liso, Paola; Freri, Elena; Costa, Paola; Castellotti, Barbara; Magri, Stefania; Gellera, Cinzia; Granata, Tiziana; Musante, Luciana; Lesca, Gaetan; Oertel, Julie; Craiu, Dana; Hammer, Trine B; Møller, Rikke S; Barisic, Nina; Abou Jamra, Rami; Polster, Tilman; Vigevano, Federico; Marini, Carla.
Afiliação
  • Matricardi S; Department of Child Neuropsychiatry, Children's Hospital, Ancona, Italy.
  • De Liso P; Department of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children's Hospital, Rome, Italy.
  • Freri E; Department of Pediatric Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Costa P; Department of Neuropsychiatry, Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy.
  • Castellotti B; Unit of Medical Genetics and Neurogenetics, Istituto di Ricovero e Cura a Carattere Scientifico Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Magri S; Unit of Medical Genetics and Neurogenetics, Istituto di Ricovero e Cura a Carattere Scientifico Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Gellera C; Unit of Medical Genetics and Neurogenetics, Istituto di Ricovero e Cura a Carattere Scientifico Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Granata T; Department of Pediatric Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Musante L; Department of Medical Genetics, Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy.
  • Lesca G; Department of Medical Genetics, Lyon Civil Hospices, Lyon, France.
  • Oertel J; Department of Medical Genetics, Archet Hospital 2, Nice University Hospital Center, Nice, France.
  • Craiu D; Department of Clinical Neurosciences, Carol Davila University of Medicine and Pharmacy Bucharest, Bucharest, Romania.
  • Hammer TB; Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.
  • Møller RS; Danish Epilepsy Center Filadelfia, Dianalund, Denmark.
  • Barisic N; Danish Epilepsy Center Filadelfia, Dianalund, Denmark.
  • Abou Jamra R; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Polster T; Division of Child Neurology, Department of Pediatrics, Clinical Medical Center Zagreb, University of Zagreb Medical School, Zagreb, Croatia.
  • Vigevano F; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
  • Marini C; Pediatric Epileptology, Mara Hospital, Bethel Epilepsy Center, Bielefeld, Germany.
Epilepsia ; 61(11): 2474-2485, 2020 11.
Article em En | MEDLINE | ID: mdl-33063863
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Encefalopatias / Deficiências do Desenvolvimento / Predisposição Genética para Doença / Simportadores / Epilepsia Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Encefalopatias / Deficiências do Desenvolvimento / Predisposição Genética para Doença / Simportadores / Epilepsia Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article