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Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Oliver, Karen L; Franceschetti, Silvana; Milligan, Carol J; Muona, Mikko; Mandelstam, Simone A; Canafoglia, Laura; Boguszewska-Chachulska, Anna M; Korczyn, Amos D; Bisulli, Francesca; Di Bonaventura, Carlo; Ragona, Francesca; Michelucci, Roberto; Ben-Zeev, Bruria; Straussberg, Rachel; Panzica, Ferruccio; Massano, João; Friedman, Daniel; Crespel, Arielle; Engelsen, Bernt A; Andermann, Frederick; Andermann, Eva; Spodar, Krystyna; Lasek-Bal, Anetta; Riguzzi, Patrizia; Pasini, Elena; Tinuper, Paolo; Licchetta, Laura; Gardella, Elena; Lindenau, Matthias; Wulf, Annette; Møller, Rikke S; Benninger, Felix; Afawi, Zaid; Rubboli, Guido; Reid, Christopher A; Maljevic, Snezana; Lerche, Holger; Lehesjoki, Anna-Elina; Petrou, Steven; Berkovic, Samuel F.
Afiliação
  • Oliver KL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Franceschetti S; Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.
  • Milligan CJ; Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.
  • Muona M; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
  • Mandelstam SA; Folkhälsan Institute of Genetics, Helsinki, Finland.
  • Canafoglia L; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Boguszewska-Chachulska AM; Neuroscience Center, University of Helsinki, Helsinki, Finland.
  • Korczyn AD; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.
  • Bisulli F; Departments of Paediatrics and Radiology, University of Melbourne, Melbourne, Victoria, Australia.
  • Di Bonaventura C; Department of Medical Imaging, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Ragona F; Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.
  • Michelucci R; Genomed Health Care Center, Genomed, Warsaw, Poland.
  • Ben-Zeev B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Straussberg R; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Panzica F; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Massano J; Department of Neurological Sciences, University of Rome, La Sapienza, Rome, Italy.
  • Friedman D; Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.
  • Crespel A; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Engelsen BA; Unit of Neurology, Bellaria Hospital, Bologna, Italy.
  • Andermann F; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Andermann E; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Spodar K; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Lasek-Bal A; Epilepsy Unit, Schneider Children's Medical Center of Israel, Petah Tikvah, Israel.
  • Riguzzi P; Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.
  • Pasini E; Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora, Portugal.
  • Tinuper P; Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal.
  • Licchetta L; Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY.
  • Gardella E; Epilepsy Unit, Gui de Chauliac Hospital, Montpellier, France.
  • Lindenau M; Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Wulf A; Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.
  • Møller RS; Departments of Neurology & Neurosurgery and Paediatrics, McGill University, Montreal, Quebec, Canada.
  • Benninger F; Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.
  • Afawi Z; Departments of Neurology & Neurosurgery and Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Rubboli G; Genomed Health Care Center, Genomed, Warsaw, Poland.
  • Reid CA; High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice, Poland.
  • Maljevic S; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Lerche H; Unit of Neurology, Bellaria Hospital, Bologna, Italy.
  • Lehesjoki AE; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Petrou S; Unit of Neurology, Bellaria Hospital, Bologna, Italy.
  • Berkovic SF; IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.
Ann Neurol ; 81(5): 677-689, 2017 May.
Article em En | MEDLINE | ID: mdl-28380698
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Epilepsias Mioclônicas / Canais de Potássio Shaw / Disfunção Cognitiva / Temperatura Alta Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Epilepsias Mioclônicas / Canais de Potássio Shaw / Disfunção Cognitiva / Temperatura Alta Idioma: En Ano de publicação: 2017 Tipo de documento: Article