A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Author: Muona, Mikko; Berkovic, Samuel F.; Dibbens, Leanne M.; Oliver, Karen L.; Maljevic, Snezana; Bayly, Marta A.; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E.; Hildebrand, Michael S.; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E.; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D.; Ozkara, Cigdem; Andrade, Danielle M.; Engelsen, Bernt A.; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, Joao; Privitera, Michael; Espay, Alberto J.; Kauffmann, Birgit; Duchowny, Michael; Moller, Rikke S.; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E.; Daly, Mark J.; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina
Tübinger Autor(en):
Maljevic, Snezana
Lohmann, Ebba
Lerche, Holger
Published in: Nature Genetics (2015), Bd. 47, H. 1, S. 39-
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/ng.3144
ISSN: 1061-4036
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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