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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Parrini, Elena; Marini, Carla; Mei, Davide; Galuppi, Anna; Cellini, Elena; Pucatti, Daniela; Chiti, Laura; Rutigliano, Domenico; Bianchini, Claudia; Virdò, Simona; De Vita, Dalila; Bigoni, Stefania; Barba, Carmen; Mari, Francesco; Montomoli, Martino; Pisano, Tiziana; Rosati, Anna; Guerrini, Renzo.
  • Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Marini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Mei D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Galuppi A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Cellini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Pucatti D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Chiti L; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Rutigliano D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Bianchini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Virdò S; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • De Vita D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Bigoni S; UOL of Medical Genetics, Ferrara University Hospital, Ferrara, Italy.
  • Barba C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Mari F; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Montomoli M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Pisano T; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Rosati A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
Hum Mutat ; 38(2): 216-225, 2017 02.
Article en En | MEDLINE | ID: mdl-27864847
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Resistencia a Medicamentos / Predisposición Genética a la Enfermedad / Epilepsia / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Resistencia a Medicamentos / Predisposición Genética a la Enfermedad / Epilepsia / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2017 Tipo del documento: Article