Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Authors: Katrine M Johannesen; Yuanyuan Liu; Mahmoud Koko; Cathrine E Gjerulfsen; Lukas Sonnenberg; Julian Schubert; Christina D Fenger; Ahmed Eltokhi; Maert Rannap; Nils A Koch; Johanna Krüger; Josua Kegele; Laura Canafoglia; Silvana Franceschetti; Thomas Mayer; Johannes Rebstock; Pia Zacher; Susanne Ruf; Michael Alber; Katalin Sterbova; Petra Lassuthová; Marketa Vlckova; Johannes R Lemke; Konrad Platzer; Ilona Krey; Constanze Heine; Dagmar Wieczorek; Judith Kroell-Seger; Caroline Lund; Karl Martin Klein; P Y Billie Au; Jong M Rho; Alice W Ho; Silvia Masnada; Pierangelo Veggiotti; Lucio Giordano; Patrizia Accorsi; Christina E Hoei-Hansen; Pasquale Striano; Federico Zara; Helene Verhelst; Judith S Verhoeven; Hilde M H Braakman; Bert van der Zwaag; Aster V E Harder; Eva Brilstra; Manuela Pendziwiat; Sebastian Lebon; Maria Vaccarezza; Ngoc Minh Le; Jakob Christensen; Sabine Grønborg; Stephen W Scherer; Jennifer Howe; Walid Fazeli; Katherine B Howell; Richard Leventer; Chloe Stutterd; Sonja Walsh; Marion Gerard; Bénédicte Gerard; Sara Matricardi; Claudia M Bonardi; Stefano Sartori; Andrea Berger; Dorota Hoffman-Zacharska; Massimo Mastrangelo; Francesca Darra; Arve Vøllo; M Mahdi Motazacker; Phillis Lakeman; Mathilde Nizon; Cornelia Betzler; Cecilia Desmettre Altuzarra; Roseline Caume; Agathe Roubertie; Philippe Gélisse; Carla Marini; Renzo Guerrini; Frederic Bilan; Daniel Tibussek; Margarete Koch-Hogrebe; M Scott Perry; Shoji Ichikawa; Elena Dadali; Artem Sharkov; Irina Mishina; Mikhail Abramov; Ilya Kanivets; Sergey Korostelev; Sergey Kutsev; Karen E Wain; Nancy Eisenhauer; Monisa Wagner; Juliann M Savatt; Karen Müller-Schlüter; Haim Bassan; Artem Borovikov; Marie Cecile Nassogne; Anne Destrée; An Sofie Schoonjans; Marije Meuwissen; Marga Buzatu; Anna Jansen; Emmanuel Scalais; Siddharth Srivastava; Wen Hann Tan; Heather E Olson; Tobias Loddenkemper; Annapurna Poduri; Katherine L Helbig; Ingo Helbig; Mark P Fitzgerald; Ethan M Goldberg; Timo Roser; Ingo Borggraefe; Tobias Brünger; Patrick May; Dennis Lal; Damien Lederer; Guido Rubboli; Henrike O Heyne; Gaetan Lesca; Ulrike B S Hedrich; Jan Benda; Elena Gardella; Holger Lerche; Rikke S Møller
Collaborators: Aarhus University; Alberta Children's Hospital; Antwerp University Hospital; Boston Children's Hospital; Brandenburg Medical School; Broad Institute of MIT and Harvard; Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic; Child Neurology, Center for Pediatric and Teenage Health Care, Sankt Augustin; Child Neuropsychiatric Unit, Civilian Hospital, Brescia; Children's Hospital G. Salesi, Ancona; Children's Hospital of Philadelphia; CHU Côte de Nacre; CHU de Poitiers; CHU Lille; CHU Montpellier; CHU Nantes, Service de Génétique Médicale, Nantes, France; Cleveland Clinic; Cook Children's Hospital; Copenhagen University Hospital; Epilepsy Center for Children and Adolescents, Vogtareuth, Germany; Epilepsy Center Kleinwachau; Fondazione IRCCS Istituto Neurologio Carlo Besta; Geisinger Autism & Developmental Medicine Institute; Genomed Ltd; Gent University Hospital; Heinrich-Heine-University; Hôpitaux universitaires de Strasbourg; Hospital Italiano de Buenos Aires; Human Genetics Department, Radboud University Medical Center; I.M. Sechenov First Moscow State Medical University; Institute for Pathology and Genetics, Gosselies; Institute of Mother and Child, Warsaw; IRCCS Istituto Giannina Gaslini; IRCCS Stella Maris; Kiel University; Klinikum Weiden, Kliniken Nordoberpfalz AG,; Ludwig-Maximilians University; Maastricht University Medical Center; Marie Curie Hospital-CHU Charleroi; Massachusetts General Hospital; Murdoch Childrens Research Institute; NHS; Oestfold Hospital; Oslo University Hospital; Pirogov Russian National Research Medical University; Research Centre for Medical Genetics, Moscow; Research Institute 'Rehabilitation, Transition, Palliation', PMU Salzburg; Russian Medical Academy of Continuous Professional Education; Shamir Medical Center (Assaf Harofe); St. Jacques Hospital; Svt. Luka's Institute of Child Neurology & Epilepsy; Swiss Epilepsy Centre; Tel Aviv University; The Danish Epilepsy Centre; The Hospital for Sick Children, The University of Toronto; The Royal Children's Hospital; Università di Padova; Université Catholique de Louvain; Université Claude Bernard Lyon 1; University Hospital Bonn; University Hospital Carl Gustav Carus Dresden; University Medical Center Utrecht; University of Amsterdam; University of Calgary Cumming School of Medicine; University of Florence; University of Genoa; University of Leipzig Hospitals and Clinics; University of Luxembourg; University of Milan; University of Pennsylvania; University of Southern Denmark; University of Toronto; University of Verona; V. Buzzi Children's Hospital; Vestische Kinder- und Jugendklinik; Vittore Buzzi Hospital; Vrije Universiteit Brussel