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Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Castellotti, Barbara; Canafoglia, Laura; Freri, Elena; Tappatà, Maria; Messina, Giuliana; Magri, Stefania; DiFrancesco, Jacopo C; Fanella, Martina; Di Bonaventura, Carlo; Morano, Alessandra; Granata, Tiziana; Gellera, Cinzia; Franceschetti, Silvana; Michelucci, Roberto.
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  • Castellotti B; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Canafoglia L; Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Tappatà M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center, Unit of Neurology, Bellaria Hospital, Bologna, Italy.
  • Messina G; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Magri S; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • DiFrancesco JC; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Fanella M; Department of Neurology, Fondazione IRCCS San Gerardo dei Tintori, University of Milano-Bicocca, Monza, Italy.
  • Di Bonaventura C; Department of Neurology, Fabrizio Spaziani Hospital, Frosinone, Italy.
  • Morano A; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
  • Granata T; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
  • Gellera C; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Franceschetti S; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Michelucci R; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Epilepsia Open ; 8(2): 645-650, 2023 06.
Article en En | MEDLINE | ID: mdl-36719163
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas Progresivas / Semaforinas / Epilepsia / Mioclonía Límite: Humans Idioma: En Revista: Epilepsia Open Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas Progresivas / Semaforinas / Epilepsia / Mioclonía Límite: Humans Idioma: En Revista: Epilepsia Open Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos