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IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella, Elena; Michelucci, Roberto; Christensen, Hanne M; Fenger, Christina D; Reale, Chiara; Riguzzi, Patrizia; Pasini, Elena; Albini-Riccioli, Luca; Papa, Valentina; Foschini, Maria Pia; Cenacchi, Giovanna; Furia, Francesca; Marjanovic, Dragan; Hammer, Trine B; Møller, Rikke S; Rubboli, Guido.
  • Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
  • Michelucci R; Department of Clinical Neurophysiology, Danish Epilepsy Center, Dianalund, Denmark.
  • Christensen HM; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Fenger CD; European Reference Network for Rare and Complex epilepsies (ERN) EpiCARE, University Hospitals of Lyon, Lyon, France.
  • Reale C; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy.
  • Riguzzi P; Department of Neurology, Rigshospitalet, Copenhagen, Denmark.
  • Pasini E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
  • Albini-Riccioli L; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
  • Papa V; Child Neuropsychiatry Unit, Department of Surgical Sciences, Dentistry, Gynecology, and Pediatrics, University of Verona, Verona, Italy.
  • Foschini MP; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy.
  • Cenacchi G; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy.
  • Furia F; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neuroradiology, Bellaria Hospital, Bologna, Italy.
  • Marjanovic D; DIBINEM, University of Bologna, Bologna, Italy.
  • Hammer TB; Unit of Pathological Anatomy, University of Bologna, Bellaria Hospital, Bologna, Italy.
  • Møller RS; DIBINEM, University of Bologna, Bologna, Italy.
  • Rubboli G; Unit of Pathological Anatomy, IRCCS Azienda Ospedaliera Universitaria S.Orsola-Malpighi, Bologna, Italy.
Epilepsia ; 64(8): e170-e176, 2023 08.
Article en En | MEDLINE | ID: mdl-37114479
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Epilepsias Mioclónicas Progresivas / Epilepsia / Mioclonía Límite: Child / Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Epilepsias Mioclónicas Progresivas / Epilepsia / Mioclonía Límite: Child / Humans Idioma: En Año: 2023 Tipo del documento: Article