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TITLE: Myoclonus Epilepsy and Ataxia due to KCNC1 Mutation: Analysis of 20 Cases and K plus Channel Properties. MEAK Full Text
AUTHORS: Karen L Oliver; Silvana Franceschetti; Carol J Milligan; Mikko Muona; Simone A Mandelstam; Laura Canafoglia; Anna M Boguszewska Chachulska; Amos D Korczyn; Francesca Bisulli; Carlo Di Bonaventura; Francesca Ragona; Roberto Michelucci; Bruria Ben Zeev; Rachel Straussberg; Ferruccio Panzica; João Massano ; Daniel Friedman; Arielle Crespel; Bernt A Engelsen; Frederick Andermann; Eva Andermann; Krystyna Spodar; Anetta Lasek Bal; Patrizia Riguzzi; Elena Pasini; Paolo Tinuper; Laura Licchetta; Elena Gardella; Matthias Lindenau; Annette Wulf; Rikke S Moller; Felix Benninger; Zaid Afawi; Guido Rubboli; Christopher A Reid; Snezana Maljevic; Holger Lerche; Anna Elina Lehesjoki; Steven Petrou; Samuel F Berkovic; ...More
PUBLISHED: 2017, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 81, ISSUE: 5

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TITLE: A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy Full Text
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 Moller; Rachel Straussberg; Zaid Afawi; Bruria Ben Zeev; Kaitlin E Samocha; Mark J Daly; Steven Petrou; Holger Lerche; Aarno Palotie; Anna Elina Lehesjoki; ...More
PUBLISHED: 2015, SOURCE: NATURE GENETICS, VOLUME: 47, ISSUE: 1

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