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A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.
Bonzanni, Mattia; DiFrancesco, Jacopo C; Milanesi, Raffaella; Campostrini, Giulia; Castellotti, Barbara; Bucchi, Annalisa; Baruscotti, Mirko; Ferrarese, Carlo; Franceschetti, Silvana; Canafoglia, Laura; Ragona, Francesca; Freri, Elena; Labate, Angelo; Gambardella, Antonio; Costa, Cinzia; Rivolta, Ilaria; Gellera, Cinzia; Granata, Tiziana; Barbuti, Andrea; DiFrancesco, Dario.
Afiliação
  • Bonzanni M; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
  • DiFrancesco JC; Clinical Neurophysiology and Epilepsy Center, "C. Besta" Neurological Institute, Milano, Italy; Dept. of Neurology, San Gerardo Hospital, Laboratory of Neurobiology, Milan Center for Neuroscience, University of Milano-Bicocca, Monza, Italy. Electronic address: jacopo.difrancesco@unimib.it.
  • Milanesi R; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
  • Campostrini G; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
  • Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, "C. Besta" Neurological Institute, Milano, Italy.
  • Bucchi A; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
  • Baruscotti M; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
  • Ferrarese C; Dept. of Neurology, San Gerardo Hospital, Laboratory of Neurobiology, Milan Center for Neuroscience, University of Milano-Bicocca, Monza, Italy.
  • Franceschetti S; Clinical Neurophysiology and Epilepsy Center, "C. Besta" Neurological Institute, Milano, Italy.
  • Canafoglia L; Clinical Neurophysiology and Epilepsy Center, "C. Besta" Neurological Institute, Milano, Italy.
  • Ragona F; Dept. of Pediatric Neuroscience, "C. Besta" Neurological Institute, Milano, Italy.
  • Freri E; Dept. of Pediatric Neuroscience, "C. Besta" Neurological Institute, Milano, Italy.
  • Labate A; Institute of Neurology, University "Magna Graecia", Catanzaro, Italy.
  • Gambardella A; Institute of Neurology, University "Magna Graecia", Catanzaro, Italy.
  • Costa C; Neurology Unit, Department of Medicine, University of Perugia, Ospedale S. Maria della Misericordia, Perugia, Italy.
  • Rivolta I; School of Medicine and Surgery, Milan Center for Neuroscience and Nanomedicine Center, University of Milano-Bicocca, Monza, Italy.
  • Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, "C. Besta" Neurological Institute, Milano, Italy.
  • Granata T; Dept. of Pediatric Neuroscience, "C. Besta" Neurological Institute, Milano, Italy.
  • Barbuti A; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy. Electronic address: andrea.barbuti@unimi.it.
  • DiFrancesco D; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
Neurobiol Dis ; 118: 55-63, 2018 10.
Article em En | MEDLINE | ID: mdl-29936235

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Potássio / Epilepsia Generalizada / Canais Disparados por Nucleotídeos Cíclicos Ativados por Hiperpolarização / Mutação / Neurônios Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Potássio / Epilepsia Generalizada / Canais Disparados por Nucleotídeos Cíclicos Ativados por Hiperpolarização / Mutação / Neurônios Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article