Your browser doesn't support javascript.
loading
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro, Annalisa; Nielsen, Hang N; Holm, Rikke; Hevner, Robert F; Parrini, Elena; Powis, Zoe; Møller, Rikke S; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaétan; Helbig, Katherine L; Palmer, Elizabeth E; Mei, Davide; Ballardini, Elisa; Van Haeringen, Arie; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M S; Clayton-Smith, Jill; Bigoni, Stefania; Scheffer, Ingrid E; Dobyns, William B; Vilsen, Bente; Guerrini, Renzo.
Afiliación
  • Vetro A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Nielsen HN; Department of Biomedicine, Aarhus University, DK-8000, Aarhus C, Denmark.
  • Holm R; Department of Biomedicine, Aarhus University, DK-8000, Aarhus C, Denmark.
  • Hevner RF; Department of Pathology, University of California San Diego, San Diego, CA, USA.
  • Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Powis Z; Ambry Genetics, Aliso Viejo, CA, USA.
  • Møller RS; Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre, Filadelfia, Denmark.
  • Bellan C; Department of Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Simonati A; Department of Neonatal Intensive Care Unit, Bolognini Hospital, ASST-Bergamo Est, Seriate, Italy.
  • Lesca G; Neurology (Child Neurology and Neuropathology), Department of Neuroscience, Biomedicine and Movement, University of Verona, Verona, Italy.
  • Helbig KL; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon, Lyon, France.
  • Palmer EE; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Mei D; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
  • Ballardini E; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.
  • Van Haeringen A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Syrbe S; Neonatal Intensive Care Unit, Pediatric Section, Department of Medical Sciences, Ferrara University, Ferrara, Italy.
  • Leuzzi V; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Cioni G; Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Curry CJ; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy.
  • Costain G; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Santucci M; Genetic Medicine, Department of Pediatrics, University of California, San Francisco/Fresno, CA, USA.
  • Chong K; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mancini GMS; Child Neuropsychiatry Unit, IRCCS, Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy.
  • Clayton-Smith J; DIBINEM, University of Bologna, Bologna, Italy.
  • Bigoni S; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
  • Scheffer IE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Dobyns WB; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, UK.
  • Vilsen B; Medical Genetics Unit, Department of Mother and Child, Ferrara University Hospital, Ferrara, Italy.
  • Guerrini R; University of Melbourne, Austin Health and Royal Children's Hospital, Florey and Murdoch Institutes, Melbourne, Australia.
Brain ; 144(5): 1435-1450, 2021 06 22.
Article en En | MEDLINE | ID: mdl-33880529
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / ATPasa Intercambiadora de Sodio-Potasio / Epilepsia / Polimicrogiria Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / ATPasa Intercambiadora de Sodio-Potasio / Epilepsia / Polimicrogiria Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article País de afiliación: Italia