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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini, Carla; Porro, Alessandro; Rastetter, Agnès; Dalle, Carine; Rivolta, Ilaria; Bauer, Daniel; Oegema, Renske; Nava, Caroline; Parrini, Elena; Mei, Davide; Mercer, Catherine; Dhamija, Radhika; Chambers, Chelsea; Coubes, Christine; Thévenon, Julien; Kuentz, Paul; Julia, Sophie; Pasquier, Laurent; Dubourg, Christèle; Carré, Wilfrid; Rosati, Anna; Melani, Federico; Pisano, Tiziana; Giardino, Maria; Innes, A Micheil; Alembik, Yves; Scheidecker, Sophie; Santos, Manuela; Figueiroa, Sonia; Garrido, Cristina; Fusco, Carlo; Frattini, Daniele; Spagnoli, Carlotta; Binda, Anna; Granata, Tiziana; Ragona, Francesca; Freri, Elena; Franceschetti, Silvana; Canafoglia, Laura; Castellotti, Barbara; Gellera, Cinzia; Milanesi, Raffaella; Mancardi, Maria Margherita; Clark, Damien R; Kok, Fernando; Helbig, Katherine L; Ichikawa, Shoji; Sadler, Laurie; Neupauerová, Jana; Lassuthova, Petra.
Afiliação
  • Marini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
  • Porro A; EuroEPINOMICS RES Consortium.
  • Rastetter A; Department of Biosciences, University of Milan, Milan, Italy.
  • Dalle C; 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.
  • Rivolta I; 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.
  • Bauer D; School of Medicine and Surgery, University Milano-Bicocca, Monza, Italy.
  • Oegema R; Computational Biology and Simulation Group, Department of Biology, Technische Universität Darmstadt, Darmstadt, Germany.
  • Nava C; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Parrini E; EuroEPINOMICS RES Consortium.
  • Mei D; 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.
  • Mercer C; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Dhamija R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
  • Chambers C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
  • Coubes C; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Thévenon J; Department of Clinical Genomics and Neurology, Mayo Clinic, Phoenix, AZ, USA.
  • Kuentz P; Department of Neurosciences, University of Virginia, Charlottesville, VA, USA.
  • Julia S; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Montpellier, France.
  • Pasquier L; FHU-TRANSLAD, Université de Bourgogne/CHU Dijon and INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.
  • Dubourg C; FHU-TRANSLAD, Université de Bourgogne/CHU Dijon and INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.
  • Carré W; Génétique Biologique Histologie, CHRU de Besançon, Besançon, France.
  • Rosati A; Service de génétique médicale, Pôle de biologie, CHU de Toulouse - Hôpital Purpan, Toulouse, France.
  • Melani F; Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de causes rares (CRDI), CHU Rennes, Rennes, France.
  • Pisano T; Laboratoire de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes, France.
  • Giardino M; Laboratoire de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes, France.
  • Innes AM; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
  • Alembik Y; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
  • Scheidecker S; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
  • Santos M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
  • Figueiroa S; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Garrido C; Laboratoires de génétique, Institut de génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Fusco C; Laboratoires de génétique, Institut de génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Frattini D; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
  • Spagnoli C; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
  • Binda A; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
  • Granata T; Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Ragona F; Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Freri E; Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Franceschetti S; School of Medicine and Surgery, University Milano-Bicocca, Monza, Italy.
  • Canafoglia L; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Castellotti B; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Gellera C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Milanesi R; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Mancardi MM; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Clark DR; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Kok F; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Helbig KL; Department of Biosciences, The PaceLab, Università degli Studi di Milano, Milan, Italy.
  • Ichikawa S; Child Neuropsychiatry Unit, Department of Medical and Surgical Neurosciences and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Sadler L; Women's and Children's Hospital, Adelaide, Australia.
  • Neupauerová J; Mendelics Genomic Analysis, Sao Paulo, SP, Brazil.
  • Lassuthova P; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Brain ; 141(11): 3160-3178, 2018 11 01.
Article em En | MEDLINE | ID: mdl-30351409
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Canais de Potássio / Epilepsia Generalizada / Canais Disparados por Nucleotídeos Cíclicos Ativados por Hiperpolarização / Mutação Limite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Canais de Potássio / Epilepsia Generalizada / Canais Disparados por Nucleotídeos Cíclicos Ativados por Hiperpolarização / Mutação Limite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido