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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Henden, Lyndal; Freytag, Saskia; Afawi, Zaid; Baldassari, Sara; Berkovic, Samuel F; Bisulli, Francesca; Canafoglia, Laura; Casari, Giorgio; Crompton, Douglas Ewan; Depienne, Christel; Gecz, Jozef; Guerrini, Renzo; Helbig, Ingo; Hirsch, Edouard; Keren, Boris; Klein, Karl Martin; Labauge, Pierre; LeGuern, Eric; Licchetta, Laura; Mei, Davide; Nava, Caroline; Pippucci, Tommaso; Rudolf, Gabrielle; Scheffer, Ingrid Eileen; Striano, Pasquale; Tinuper, Paolo; Zara, Federico; Corbett, Mark; Bahlo, Melanie.
Afiliación
  • Henden L; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.
  • Freytag S; Department of Medical Biology, University of Melbourne, Melbourne, VIC, 3010, Australia.
  • Afawi Z; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.
  • Baldassari S; Department of Medical Biology, University of Melbourne, Melbourne, VIC, 3010, Australia.
  • Berkovic SF; Tel Aviv University Medical School, 69978, Tel Aviv, Israel.
  • Bisulli F; Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
  • Canafoglia L; Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084, Australia.
  • Casari G; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Crompton DE; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Depienne C; Neurophysiopathology and Epilepsy Center, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
  • Gecz J; Division of Genetics and Cell Biology, Università Vita-Salute San Raffaele, San Raffaele Scientific Institute, Milan, Italy.
  • Guerrini R; Neurology Department, Northern Health, Melbourne, VIC, 3076, Australia.
  • Helbig I; Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.
  • Hirsch E; Laboratoire de diagnostic génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Keren B; Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005, Australia.
  • Klein KM; School of Biological Sciences, The University of Adelaide, Adelaide, SA, 5005, Australia.
  • Labauge P; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • LeGuern E; IRCCS Stella Maris Foundation, Pisa, Italy.
  • Licchetta L; Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center, Kiel, Schleswig-Holstein, Germany.
  • Mei D; Departments of Brain and Cognitive Sciences, Physiology and Cell Biology, Zlotowski Center for Neuroscience, Ben-Gurion University of the Negev, Negev, Israel.
  • Nava C; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA.
  • Pippucci T; Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg, France.
  • Rudolf G; Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.
  • Scheffer IE; Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris, France.
  • Striano P; Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt, Germany.
  • Tinuper P; Department of Neurology, Epilepsy Center Hessen, University Hospitals Giessen and Marburg, Philipps-University Marburg, Marburg, Germany.
  • Zara F; Department of Neurology, Montpellier University, Gui de Chauliac, 34295, Montpellier, Cedex 5, France.
  • Corbett M; Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris, France.
  • Bahlo M; INSERM, U 1127; CNRS, UMR 7225; INSERM UMR 975; Institut du Cerveau et de la Moelle Epinière; and Département de Génétique et de Cytogénétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux De Paris (AP-HP), Paris, France.
Hum Genet ; 135(10): 1117-25, 2016 10.
Article en En | MEDLINE | ID: mdl-27368338
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Convulsiones / Epilepsias Mioclónicas / Heterogeneidad Genética / Músculo Liso Límite: Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Convulsiones / Epilepsias Mioclónicas / Heterogeneidad Genética / Músculo Liso Límite: Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Australia