A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Year: 2014
Type: article
Study design: Observational Study
Source: Nature Genetics
DOI: 10.1038/ng.3144
Authors: Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E Heron, Michael S Hildebrand, Eva Andermann, Frederick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betul Baykan, Edith Said, Meral Topcu, Patrizia Riguzzi, Mary D King, Cigdem Ozkara, Danielle M Andrade, Bernt A Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J Espay, Birgit Kauffmann, Michael Duchowny, Rikke S Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben-Zeev, Kaitlin E Samocha, Mark J Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki
Institutions: University of Helsinki, Institute for Molecular Medicine Finland, The University of Melbourne, Austin Health, University of South Australia, Hertie Institute for Clinical Brain Research, University of Tübingen, Folkhälsans Forskningscentrum, Fondazione IRCCS Istituto Neurologico Carlo Besta, Ospedale Bellaria, Montreal Neurological Institute and Hospital, McGill University, Magna Graecia University, Institute of Neurological Sciences, Istituto delle Scienze Neurologiche di Bologna, University of Bologna, Royal Children's Hospital, Florey Institute of Neuroscience and Mental Health, Austin Hospital, Federico II University Hospital, University of Naples Federico II, Azienda ospedaliera "Bianchi-Melacrino-Morelli", Balochistan University of Information Technology, Engineering and Management Sciences, Mayo Hospital, Istanbul University, University of Malta, Mater Dei Hospital, Hacettepe University, University College Dublin, Temple Street Children's University Hospital, Istanbul University-Cerrahpaşa, University of Toronto, Toronto Western Hospital, Haukeland University Hospital, University of Bergen, Hôpital Gui de Chauliac, German Center for Neurodegenerative Diseases, Universidade do Porto, Hospital de São João, University of Cincinnati, Klinikum Links der Weser, University of Miami, University of Miami Health System, Miami Children's Hospital, University of Southern Denmark, The Danish Epilepsy Association, Tel Aviv University, Schneider Children's Medical Center, Ben-Gurion University of the Negev, Sheba Medical Center, Edmond and Lily Safra Children's Hospital, Broad Institute, Harvard University, Massachusetts General Hospital, Stanley Center for Psychiatric Research, Massachusetts Institute of Technology, Wellcome Sanger Institute
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funder: Wellcome Trust
OpenAlex ID: W2026050615