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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
van der Knoop, Marieke M; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de França, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A L; Eaton, Alison J; Morneau-Jacob, Francois D; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J; Peeters-Scholte, Cacha M P C D; Kurul, Semra Hiz; Horvath, Rita; Lochmüller, Hanns; Murphy, David; Waldmüller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S; Voinova, Victoria Y; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Alkuraya, Fowzan S; Mefford, Heather C; Alfadhel, Majid; Haack, Tobias B; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry.
Affiliation
  • van der Knoop MM; Department of Child Neurology, Sophia Children's Hospital, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
  • Fukata Y; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.
  • van Ierland Y; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Aichi 444-8585, Japan.
  • Karimiani EG; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Lehesjoki AE; Next Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran.
  • Muona M; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's University, London SW17 0RE, UK.
  • Paetau A; Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00290, Finland.
  • Miyazaki Y; Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00290, Finland.
  • Hirano Y; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland, 00100 Helsinki, Finland.
  • Selim L; Blueprint Genetics, 02150 Espoo, Finland.
  • de França M; Department of Pathology, Medicum, University of Helsinki, 00100 Helsinki, Finland.
  • Fock RA; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.
  • Beetz C; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Aichi 444-8585, Japan.
  • Ruivenkamp CAL; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.
  • Eaton AJ; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Bunkyo, Tokyo 113-8655, Japan.
  • Morneau-Jacob FD; Division of Neurology and Metabolism, Kasr Al Ainy School of Medicine, Cairo University Children Hospital, Cairo, Egypt.
  • Sagi-Dain L; Department of Morphology and Genetics, Clinical Center of Medical Genetics Federal, University of São Paulo, São Paulo, Brazil.
  • Shemer-Meiri L; Department of Morphology and Genetics, Clinical Center of Medical Genetics Federal, University of São Paulo, São Paulo, Brazil.
  • Peleg A; Centogene GmbH, 18055 Rostock, Germany.
  • Haddad-Halloun J; Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
  • Kamphuis DJ; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.
  • Peeters-Scholte CMPCD; Division of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada.
  • Kurul SH; Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine Technion-Israel Institute of Technology, Genetics Institute, Carmel Medical Center, Haifa, Israel.
  • Horvath R; Pediatric Neurology Unit, Carmel Medical Center, Haifa, Israel.
  • Lochmüller H; Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine Technion-Israel Institute of Technology, Genetics Institute, Carmel Medical Center, Haifa, Israel.
  • Murphy D; Department of Biology, Technion-Israel Institute of Technology, Haifa 3200003, Israel.
  • Waldmüller S; Department of Neurology, Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands.
  • Spranger S; Department of Neurology, Leiden University Medical Center, 2300 RA Leiden, The Netherlands.
  • Overberg D; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.
  • Muir AM; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir, Turkey.
  • Rad A; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
  • Vona B; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Abdulwahad F; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
  • Maddirevula S; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Povolotskaya IS; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
  • Voinova VY; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Gowda VK; Division of Neurology, Department of Medicine, The Ottawa Hospital; and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.
  • Srinivasan VM; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
  • Alkuraya FS; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.
  • Mefford HC; Praxis für Humangenetik, Klinikum Bremen-Mitte, Bremen 28209, Germany.
  • Alfadhel M; Department of Pediatrics, Klinikum Bremen-Mitte, Bremen 28205, Germany.
  • Haack TB; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA.
  • Striano P; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen 72076, Germany.
  • Severino M; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen 72076, Germany.
  • Fukata M; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Hilhorst-Hofstee Y; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Houlden H; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow, Russia.
Brain ; 145(7): 2301-2312, 2022 07 29.
Article de En | MEDLINE | ID: mdl-35373813
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Encéphalopathies / Protéines ADAM / Épilepsie pharmacorésistante / Protéines de tissu nerveux Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: Brain Année: 2022 Type de document: Article Pays d'affiliation: Pays-Bas Pays de publication: Royaume-Uni
Texte intégral
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Imprimer
XML
PubMed Links
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Encéphalopathies / Protéines ADAM / Épilepsie pharmacorésistante / Protéines de tissu nerveux Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: Brain Année: 2022 Type de document: Article Pays d'affiliation: Pays-Bas Pays de publication: Royaume-Uni