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SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Zaman, Tariq; Helbig, Katherine L; Clatot, Jérôme; Thompson, Christopher H; Kang, Seok Kyu; Stouffs, Katrien; Jansen, Anna E; Verstraete, Lieve; Jacquinet, Adeline; Parrini, Elena; Guerrini, Renzo; Fujiwara, Yuh; Miyatake, Satoko; Ben-Zeev, Bruria; Bassan, Haim; Reish, Orit; Marom, Daphna; Hauser, Natalie; Vu, Thuy-Anh; Ackermann, Sally; Spencer, Careni E; Lippa, Natalie; Srinivasan, Shraddha; Charzewska, Agnieszka; Hoffman-Zacharska, Dorota; Fitzpatrick, David; Harrison, Victoria; Vasudevan, Pradeep; Joss, Shelagh; Pilz, Daniela T; Fawcett, Katherine A; Helbig, Ingo; Matsumoto, Naomichi; Kearney, Jennifer A; Fry, Andrew E; Goldberg, Ethan M.
Afiliação
  • Zaman T; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Helbig KL; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Clatot J; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Thompson CH; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Kang SK; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Stouffs K; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Jansen AE; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Verstraete L; Center for Medical Genetics/Research Center for Reproduction and Genetics, University Hospital Brussels, Free University of Brussels, Brussels, Belgium.
  • Jacquinet A; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Brussels, Brussels, Belgium.
  • Parrini E; Neurogenetics Research Group, Free University of Brussels, Brussels, Belgium.
  • Guerrini R; Child Neurology, Heilig Hart Hospital Lier, Lier, Belgium.
  • Fujiwara Y; Human Genetics Service, Sart Tilman University Hospital Center, Liege, Belgium.
  • Miyatake S; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Ben-Zeev B; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Bassan H; Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan.
  • Reish O; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Marom D; Pediatric Neurology Unit, Edmond and Lili Safra Children's Hospital, Haim Sheba Medical Center, Ramat Gan, Israel.
  • Hauser N; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Vu TA; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Ackermann S; Pediatric Neurology & Development Center, Shamir Medical Center (Assaf Harofe), Zerifin, Israel.
  • Spencer CE; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Lippa N; Genetics Institute, Shamir Medical Center (Assaf Harofe) Zerifin, Zerifin, Israel.
  • Srinivasan S; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Charzewska A; Genetics Institute, Shamir Medical Center (Assaf Harofe) Zerifin, Zerifin, Israel.
  • Hoffman-Zacharska D; Inova Translational Medicine Institute, Inova Health System, Fairfax, Virginia, USA.
  • Fitzpatrick D; Department of Pediatric Neurology, Children's National Medical Center, Washington, District of Columbia, and Pediatric Specialists of Virginia, Fairfax, Virginia, USA.
  • Harrison V; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa.
  • Vasudevan P; Division of Human Genetics, Department of Medicine, University of Cape Town, South Africa and Groote Schuur Hospital, Cape Town, South Africa.
  • Joss S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.
  • Pilz DT; Department of Neurology, Columbia University Medical Center, New York, New York, USA.
  • Fawcett KA; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Helbig I; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Matsumoto N; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
  • Kearney JA; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
  • Fry AE; Department of Clinical Genetics, University Hospitals Leicester National Health Service Trust, Leicester, United Kingdom.
  • Goldberg EM; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, United Kingdom.
Ann Neurol ; 88(2): 348-362, 2020 08.
Article em En | MEDLINE | ID: mdl-32515017
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Canais de Sódio / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.3 / Transtornos do Neurodesenvolvimento Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Canais de Sódio / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.3 / Transtornos do Neurodesenvolvimento Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos