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A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
DiFrancesco, Jacopo C; Ragona, Francesca; Murano, Carmen; Frosio, Anthony; Melgari, Dario; Binda, Anna; Calamaio, Serena; Prevostini, Rachele; Mauri, Mario; Canafoglia, Laura; Castellotti, Barbara; Messina, Giuliana; Gellera, Cinzia; Previtali, Roberto; Veggiotti, Pierangelo; Milanesi, Raffaella; Barbuti, Andrea; Solazzi, Roberta; Freri, Elena; Granata, Tiziana; Rivolta, Ilaria.
Afiliación
  • DiFrancesco JC; Department of Neurology, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
  • Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Murano C; School of Medicine and Surgery, University of Milano-Bicocca, Milan Center for Neuroscience (NeuroMI), Monza, Italy.
  • Frosio A; IMTC - Institute of Molecular and Translational Cardiology, San Donato Milanese, Italy.
  • Melgari D; IMTC - Institute of Molecular and Translational Cardiology, San Donato Milanese, Italy.
  • Binda A; School of Medicine and Surgery, University of Milano-Bicocca, Milan Center for Neuroscience (NeuroMI), Monza, Italy.
  • Calamaio S; IMTC - Institute of Molecular and Translational Cardiology, San Donato Milanese, Italy.
  • Prevostini R; IMTC - Institute of Molecular and Translational Cardiology, San Donato Milanese, Italy.
  • Mauri M; School of Medicine and Surgery, University of Milano-Bicocca, Milan Center for Neuroscience (NeuroMI), Monza, Italy.
  • Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Castellotti B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Messina G; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Gellera C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Previtali R; Pediatric Neurology Unit, V. Buzzi Hospital, University of Milan, Milan, Italy.
  • Veggiotti P; Pediatric Neurology Unit, V. Buzzi Hospital, University of Milan, Milan, Italy.
  • Milanesi R; Department of Veterinary Medicine and Animal Science, University of Milan, Lodi, Italy.
  • Barbuti A; The Cell Physiology MiLab, Department of Biosciences, University of Milano, Milan, Italy.
  • Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Rivolta I; School of Medicine and Surgery, University of Milano-Bicocca, Milan Center for Neuroscience (NeuroMI), Monza, Italy.
Epilepsia ; 64(12): e222-e228, 2023 Dec.
Article en En | MEDLINE | ID: mdl-37746765
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Dieta Cetogénica Límite: Animals / Humans Idioma: En Revista: Epilepsia 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
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Dieta Cetogénica Límite: Animals / Humans Idioma: En Revista: Epilepsia Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos