HCN1mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Author:

Marini Carla12,Porro Alessandro3,Rastetter Agnès4,Dalle Carine4,Rivolta Ilaria5,Bauer Daniel6,Oegema Renske7,Nava Caroline248,Parrini Elena1,Mei Davide1,Mercer Catherine9,Dhamija Radhika10,Chambers Chelsea11,Coubes Christine12,Thévenon Julien13,Kuentz Paul1314,Julia Sophie15,Pasquier Laurent16,Dubourg Christèle17,Carré Wilfrid17,Rosati Anna1,Melani Federico1,Pisano Tiziana1,Giardino Maria1,Innes A Micheil18,Alembik Yves19,Scheidecker Sophie19,Santos Manuela20,Figueiroa Sonia20,Garrido Cristina20,Fusco Carlo21,Frattini Daniele21,Spagnoli Carlotta21,Binda Anna5,Granata Tiziana22,Ragona Francesca22,Freri Elena22,Franceschetti Silvana22,Canafoglia Laura22,Castellotti Barbara22,Gellera Cinzia22,Milanesi Raffaella23,Mancardi Maria Margherita24,Clark Damien R25,Kok Fernando26,Helbig Katherine L27,Ichikawa Shoji28,Sadler Laurie29,Neupauerová Jana30,Laššuthova Petra30,Štěrbová Katalin230,Laridon Annick31,Brilstra Eva27,Koeleman Bobby27,Lemke Johannes R232,Zara Federico33,Striano Pasquale234,Soblet Julie353637,Smits Guillaume353637,Deconinck Nicolas38,Barbuti Andrea23,DiFrancesco Dario23,LeGuern Eric248,Guerrini Renzo12,Santoro Bina39,Hamacher Kay6,Thiel Gerhard40,Moroni Anna3,DiFrancesco Jacopo C2241,Depienne Christel244243

Affiliation:

1. Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children’s Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy

2. EuroEPINOMICS RES Consortium

3. Department of Biosciences, University of Milan, Milan, Italy

4. Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France

5. School of Medicine and Surgery, University Milano-Bicocca, Monza, Italy

6. Computational Biology and Simulation Group, Department of Biology, Technische Universität Darmstadt, Darmstadt, Germany

7. Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

8. AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris, France

9. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK

10. Department of Clinical Genomics and Neurology, Mayo Clinic, Phoenix, AZ, USA

11. Department of Neurosciences, University of Virginia, Charlottesville, VA, USA

12. Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Montpellier, France

13. FHU-TRANSLAD, Université de Bourgogne/CHU Dijon and INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France

14. Génétique Biologique Histologie, CHRU de Besançon, Besançon, France

15. Service de génétique médicale, Pôle de biologie, CHU de Toulouse - Hôpital Purpan, Toulouse, France

16. Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de causes rares (CRDI), CHU Rennes, Rennes, France

17. Laboratoire de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes, France

18. Department of Medical Genetics and Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

19. Laboratoires de génétique, Institut de génétique médicale d’Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

20. Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal

21. Azienda Unità Sanitaria Locale – IRCCS di Reggio Emilia, Reggio Emilia, Italy

22. Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

23. Department of Biosciences, The PaceLab, Università degli Studi di Milano, Milan, Italy

24. Child Neuropsychiatry Unit, Department of Medical and Surgical Neurosciences and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genova, Italy

25. Women’s and Children’s Hospital, Adelaide, Australia

26. Mendelics Genomic Analysis, Sao Paulo, SP, Brazil

27. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

28. Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA

29. Division of Genetics, Department of Pediatrics, Oishei Children’s Hospital, Jacobs School of Medicine and Biomedical Sciences, University of Buffalo, State University of New York, Buffalo, NY, USA

30. Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic

31. Department of Neurology, Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands

32. Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany

33. Laboratory of Neurogenetics and Neuroscience, Institute G Gaslini, Genova, Italy

34. Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, ‘G Gaslini’ Institute, Genova, Italy

35. Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium

36. Department of Genetics, Hôpital Erasme ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium

37. Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium

38. Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, ULB, Brussels, Belgium

39. Department of Neuroscience, Columbia University, New York, NY, USA

40. Membrane Biophysics, Deparment of Biology, Technische Universität Darmstadt, Darmstadt, Germany

41. Department of Neurology, San Gerardo Hospital, University Milano-Bicocca, Monza, Italy

42. IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France

43. Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany

Funder

Agence National de la Recherche

Investissements d’avenir

Bio-Psy labex

Assistance Publique des hôpitaux de Paris

the Pierre and Marie Curie University

Italian Ministry of Health

Ministry of Research and the Arts (HMWK) of the Hessen state

Fondazione CARIPLO

Telethon Exploratory

European Commission Seventh Framework Programme FP7

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

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