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The spectrum of intermediate SCN8A-related epilepsy.
Johannesen, Katrine M; Gardella, Elena; Encinas, Alejandra C; Lehesjoki, Anna-Elina; Linnankivi, Tarja; Petersen, Michael B; Lund, Ida Charlotte Bay; Blichfeldt, Susanne; Miranda, Maria J; Pal, Deb K; Lascelles, Karine; Procopis, Peter; Orsini, Alessandro; Bonuccelli, Alice; Giacomini, Thea; Helbig, Ingo; Fenger, Christina D; Sisodiya, Sanjay M; Hernandez-Hernandez, Laura; Krithika, Sundararaman; Rumple, Melissa; Masnada, Silvia; Valente, Marialuisa; Cereda, Cristina; Giordano, Lucio; Accorsi, Patrizia; Bürki, Sarah E; Mancardi, Margherita; Korff, Christian; Guerrini, Renzo; von Spiczak, Sarah; Hoffman-Zacharska, Dorota; Mazurczak, Tomasz; Coppola, Antonietta; Buono, Salvatore; Vecchi, Marilena; Hammer, Michael F; Varesio, Costanza; Veggiotti, Pierangelo; Lal, Dennis; Brünger, Tobias; Zara, Federico; Striano, Pasquale; Rubboli, Guido; Møller, Rikke S.
Afiliação
  • Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.
  • Gardella E; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Encinas AC; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.
  • Lehesjoki AE; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Linnankivi T; Graduate Interdisciplinary Program of Genetics, University of Arizona, Tucson, Arizona.
  • Petersen MB; Folkhälsan Research Center, Helsinki, Finland.
  • Lund ICB; Research Programs Unit, Molecular Neurology and Medicum, University of Helsinki, Helsinki, Finland.
  • Blichfeldt S; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Miranda MJ; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
  • Pal DK; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
  • Lascelles K; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
  • Procopis P; Department of Pediatrics, Herlev Hospital, Herlev, Denmark.
  • Orsini A; Department of Pediatrics, Herlev Hospital, Herlev, Denmark.
  • Bonuccelli A; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK.
  • Giacomini T; King's College Hospital, London, UK.
  • Helbig I; Evelina London Children's Hospital, London, UK.
  • Fenger CD; Medical Research Council Centre for Neurodevelopmental Disorders, King's College, London, UK.
  • Sisodiya SM; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK.
  • Hernandez-Hernandez L; Children's Hospital, Westmead, Sydney, New South Wales, Australia.
  • Krithika S; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
  • Rumple M; Pediatric Neurology, Pediatric Clinic, University of Pisa, Pisa, Italy.
  • Masnada S; Pediatric Neurology, Pediatric Clinic, University of Pisa, Pisa, Italy.
  • Valente M; Child Neuropsychiatry Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Children's Sciences, Giannina Gaslini Institute, University of Genoa, Genoa, Italy.
  • Cereda C; Department of Neuropediatrics, University Medical Center Schleswig Holstein, Kiel, Germany.
  • Giordano L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Accorsi P; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.
  • Bürki SE; Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, UK.
  • Mancardi M; Chalfont Centre for Epilepsy, Bucks, UK.
  • Korff C; Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, UK.
  • Guerrini R; Chalfont Centre for Epilepsy, Bucks, UK.
  • von Spiczak S; Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, UK.
  • Hoffman-Zacharska D; Chalfont Centre for Epilepsy, Bucks, UK.
  • Mazurczak T; Pediatric Neurology, Banner Children's Specialists, Glendale, Arizona.
  • Coppola A; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Buono S; Genomic and Postgenomic Center, Scientific Institute for Research and Healthcare (IRCCS) Mondino Foundation, Pavia, Italy.
  • Vecchi M; Genomic and Postgenomic Center, Scientific Institute for Research and Healthcare (IRCCS) Mondino Foundation, Pavia, Italy.
  • Hammer MF; Child Neurology and Psychiatry Unit, Civilian Hospital, Brescia, Italy.
  • Varesio C; Child Neurology and Psychiatry Unit, Civilian Hospital, Brescia, Italy.
  • Veggiotti P; Department of Pediatrics, Division of Child Neurology, University Children's Hospital Bern, University of Bern, Bern, Switzerland.
  • Lal D; Unit of Child Neuropsychiatry, Epilepsy Center, Department of Clinical and Surgical Neuroscience and Rehabilitation, Giannina Gaslini Institute, Genoa, Italy.
  • Brünger T; Child Neurology Unit, University Children's Hospital, Geneva, Switzerland.
  • Zara F; Neuroscience Department, Children's Hospital Anna Meyer, University of Florence, Florence, Italy.
  • Striano P; Department of Neuropediatrics, Christian Albrecht University, Kiel, Germany.
  • Rubboli G; Northern German Epilepsy Center for Children and Adolescents, Schwentinental, Germany.
  • Møller RS; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Epilepsia ; 60(5): 830-844, 2019 05.
Article em En | MEDLINE | ID: mdl-30968951
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.6 Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.6 Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article