Myoclonus epilepsy and ataxia due toKCNC1mutation: Analysis of 20 cases and K+channel properties

Author:

Oliver Karen L.1,Franceschetti Silvana2,Milligan Carol J.3,Muona Mikko4567,Mandelstam Simone A.8910,Canafoglia Laura2,Boguszewska-Chachulska Anna M.11,Korczyn Amos D.12,Bisulli Francesca1314,Di Bonaventura Carlo15,Ragona Francesca16,Michelucci Roberto1317,Ben-Zeev Bruria1218,Straussberg Rachel1219,Panzica Ferruccio2,Massano João2021,Friedman Daniel22,Crespel Arielle23,Engelsen Bernt A.24,Andermann Frederick2526,Andermann Eva2728,Spodar Krystyna11,Lasek-Bal Anetta29,Riguzzi Patrizia1317,Pasini Elena1317,Tinuper Paolo1314,Licchetta Laura1314,Gardella Elena3031,Lindenau Matthias32,Wulf Annette32,Møller Rikke S.3031,Benninger Felix33,Afawi Zaid12,Rubboli Guido1334,Reid Christopher A.3,Maljevic Snezana335,Lerche Holger35,Lehesjoki Anna-Elina567,Petrou Steven336,Berkovic Samuel F.1

Affiliation:

1. Epilepsy Research Centre, Department of Medicine; University of Melbourne, Austin Health; Heidelberg Victoria Australia

2. Department of Neurophysiology; C. Besta Neurological Institute IRCCS Foundation; Milan Italy

3. Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health; Parkville Victoria Australia

4. Institute for Molecular Medicine Finland; University of Helsinki; Helsinki Finland

5. Folkhälsan Institute of Genetics; Helsinki Finland

6. Research Programs Unit, Molecular Neurology; University of Helsinki; Helsinki Finland

7. Neuroscience Center; University of Helsinki; Helsinki Finland

8. Florey Institute of Neuroscience and Mental Health; Melbourne Victoria Australia

9. Departments of Paediatrics and Radiology; University of Melbourne; Melbourne Victoria Australia

10. Department of Medical Imaging; Royal Children's Hospital; Melbourne Victoria Australia

11. Genomed Health Care Center; Genomed Warsaw Poland

12. Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

13. IRCCS-Institute of Neurological Sciences of Bologna; Bologna Italy

14. Department of Biomedical and Neuromotor Sciences; University of Bologna; Bologna Italy

15. Department of Neurological Sciences; University of Rome; La Sapienza Rome Italy

16. Department of Pediatric Neuroscience; C. Besta Neurological Institute IRCCS Foundation; Milan Italy

17. Unit of Neurology, Bellaria Hospital; Bologna Italy

18. Edmond and Lily Safra Children's Hospital, Sheba Medical Center; Ramat Gan Israel

19. Epilepsy Unit, Schneider Children's Medical Center of Israel; Petah Tikvah Israel

20. Department of Neurology; Hospital Pedro Hispano/ULS Matosinhos; Senhora da Hora Portugal

21. Department of Clinical Neurosciences and Mental Health, Faculty of Medicine; University of Porto; Porto Portugal

22. Comprehensive Epilepsy Center; New York University Langone Medical Center; New York NY

23. Epilepsy Unit, Gui de Chauliac Hospital; Montpellier France

24. Department of Clinical Medicine; University of Bergen; Bergen Norway

25. Epilepsy Research Group, Montreal Neurological Hospital and Institute; Montreal Quebec Canada

26. Departments of Neurology & Neurosurgery and Paediatrics; McGill University; Montreal Quebec Canada

27. Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute; Montreal Quebec Canada

28. Departments of Neurology & Neurosurgery and Human Genetics; McGill University; Montreal Quebec Canada

29. High School of Science; Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center; Katowice Poland

30. Danish Epilepsy Center; Dianalund Denmark

31. Institute for Regional Health Research; University of Southern Denmark; Odense Denmark

32. Department of Neurology and Epileptology; Epilepsy Center Hamburg-Alsterdorf; Hamburg Germany

33. Department of Neurology, Rabin Medical Center; Beilinson Hospital; Petah Tikvah Israel

34. Danish Epilepsy Center, Filadelfia/University of Copenhagen; Dianalund Denmark

35. University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research; Tübingen Germany

36. Centre for Neural Engineering, Department of Electrical Engineering; University of Melbourne; Parkville Victoria Australia

Funder

National Health and Medical Research Council

German Network for Rare Diseases of the Federal Ministry of Education and Research

European Science Foundation

Telethon Foundation

Folkhälsan Research Foundation

Doctoral Program of Biomedicine

Emil Aaltonen Foundation

University of Helsinki Funds

Epilepsy Research Foundation

Arvo and Lea Ylppö Foundation

Finnish Brain Foundation

Paulo Foundation

Biomedicum Helsinki Foundation

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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