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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria.
Afiliação
  • Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.
  • Liu Y; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark.
  • Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.
  • Gjerulfsen CE; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.
  • Sonnenberg L; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.
  • Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.
  • Fenger CD; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.
  • Eltokhi A; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.
  • Rannap M; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.
  • Koch NA; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.
  • Lauxmann S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.
  • Krüger J; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.
  • Kegele J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.
  • Canafoglia L; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.
  • Franceschetti S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.
  • Mayer T; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.
  • Rebstock J; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy.
  • Zacher P; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy.
  • Ruf S; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany.
  • Alber M; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany.
  • Sterbova K; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany.
  • Lassuthová P; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany.
  • Vlckova M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany.
  • Lemke JR; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic.
  • Platzer K; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic.
  • Krey I; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic.
  • Heine C; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.
  • Wieczorek D; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.
  • Kroell-Seger J; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.
  • Lund C; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.
  • Klein KM; Institute of Human Genetics, University Clinic, Heinrich-Heine-University, 40210 Düsseldorf, Germany.
  • Au PYB; Children's Department, Swiss Epilepsy Centre, Clinic Lengg, 8001 Zurich, Switzerland.
  • Rho JM; National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital, 0001 Oslo, Norway.
  • Ho AW; Departments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada.
  • Masnada S; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, AB T6G 2T4, Canada.
  • Veggiotti P; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada.
  • Giordano L; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada.
  • Accorsi P; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.
  • Hoei-Hansen CE; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.
  • Striano P; 'L. Sacco' Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy.
  • Zara F; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy.
  • Verhelst H; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy.
  • Verhoeven JS; Department of Pediatrics, Copenhagen University Hospital Rigshospitalet, 2200 Copenhagen, Denmark.
  • Braakman HMH; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.
  • van der Zwaag B; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16121 Genova, Italy.
  • Harder AVE; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy.
  • Brilstra E; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy.
  • Pendziwiat M; Department of Pediatrics, Division of Pediatric Neurology, Gent University Hospital, 9042 Gent, Belgium.
  • Lebon S; Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, 5591 Heeze, The Netherlands.
  • Vaccarezza M; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, 6525 Nijmegen, The Netherlands.
Brain ; 145(9): 2991-3009, 2022 09 14.
Article em En | MEDLINE | ID: mdl-34431999
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Canal de Sódio Disparado por Voltagem NAV1.6 / Síndromes Epilépticas / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Canal de Sódio Disparado por Voltagem NAV1.6 / Síndromes Epilépticas / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article