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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Genetics
Molecular Biology
Rheumatology
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Authors
Mikko Muona
,
Samuel Berkovic
Leanne Dibbens
,
Karen Oliver
,
Snezana Maljevic
,
Marta Bayly
,
Tarja Joensuu
,
Laura Canafoglia
,
Silvana Franceschetti
,
Roberto Michelucci
,
Salla Markkinen
,
Sarah Heron
,
Michael Hildebrand
,
Eva Andermann
,
Frédérick Andermann
,
Antonio Gambardella
,
Paolo Tinuper
,
Laura Licchetta
,
Ingrid Scheffer
,
Chiara Criscuolo
,
Alessandro Filla
,
Edoardo Ferlazzo
,
Jamil Ahmad
,
Adeel Ahmad
,
Betül Baykan
,
Edith Said
,
Meral Topçu
,
P. Riguzzi
,
Mary King
,
Çiğdem Özkara
,
Danielle Andrade
,
Bernt Engelsen
,
Arielle Crespel
,
Matthias Lindenau
,
Ebba Lohmann
,
Veronica Saletti
,
João Massano
,
Michael Privitera
,
Alberto Espay
,
Brice Kauffmann
,
Michael Duchowny
,
Rikke Møller
,
Rachel Straussberg
,
Zaid Afawi
,
Bruria Ben‐Zeev
,
Kaitlin Samocha
,
Mark Daly
,
Steven Petrou
,
Holger Lerche
,
Aarno Palotie
+48 authors
,
Anna-Elina Lehesjoki
Journal
Nature Genetics
Published
Nov 17, 2014
DOI
10.1038/ng.3144
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