1. Главная
  2. Ресурсы
  3. Библиотечный поиск
A recurrent de novomutation in KCNC1causes progressivemyoclonus epilepsy Mikko MuonaSamuel F. BerkovicLeanne M. Dibbens2014 год

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
статья из журнала

Страница публикацииПубликация в OpenAlex
Год издания: 2014
Авторы: Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, Karen Oliver, Snezana Maljevic, Marta A. Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E. Heron, Michael S. Hildebrand, Eva Andermann, Frédérick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E. Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betül Baykan, Edith Said, Meral Topçu, P. Riguzzi, Mary D. King, Çiğdem Özkara, Danielle M. Andrade, Bernt A. Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J. Espay, Brice 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
Издательство: Nature Portfolio
Источник: Nature Genetics
Ключевые слова: Glycogen Storage Diseases and Myoclonus, Genetics and Neurodevelopmental Disorders, Ion Transport and Channel Regulation
Другие ссылки: Nature Genetics (HTML)
PubMed Central (HTML)
PubMed (HTML)