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Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A; Bennett, Mark F; Damiano, John A; Zsurka, Gábor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stéphanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E; Bahlo, Melanie; Berkovic, Samuel F; Hildebrand, Michael S; Kunz, Wolfram S; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso.
Affiliation
  • Gozzelino L; Department of Molecular Biotechnology and Health Sciences, University of Torino, Torino, Italy.
  • Kochlamazashvili G; Department of Molecular Pharmacology and Cell Biology, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Strasse 10, 13125 Berlin, Germany.
  • Baldassari S; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Mackintosh AI; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, F-75013 Paris, France.
  • Licchetta L; Department of Molecular Pharmacology and Cell Biology, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Strasse 10, 13125 Berlin, Germany.
  • Iovino E; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center (Reference Center for Rare and Complex Epilepsies-EpiCARE), Bologna, Italy.
  • Liu YC; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Bennett CA; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
  • Bennett MF; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
  • Damiano JA; Department of Medical Biology, University of Melbourne, Melbourne, VictoriaAustralia.
  • Zsurka G; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
  • Marconi C; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
  • Giangregorio T; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
  • Magini P; Department of Medical Biology, University of Melbourne, Melbourne, VictoriaAustralia.
  • Kuijpers M; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
  • Maritzen T; Department of Experimental Epileptology and Cognition Research and Department of Epileptology, University Bonn Medical Center, Venusberg Campus 1, D-53105 Bonn, Germany.
  • Norata GD; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Baulac S; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Canafoglia L; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Seri M; Department of Molecular Pharmacology and Cell Biology, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Strasse 10, 13125 Berlin, Germany.
  • Tinuper P; Department of Molecular Pharmacology and Cell Biology, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Strasse 10, 13125 Berlin, Germany.
  • Scheffer IE; Department of Nanophysiology, Technische Universität Kaiserslautern, 67663 Kaiserslautern, Germany.
  • Bahlo M; Department of Excellence in Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan and Center for the Study of Atherosclerosis, SISA Bassini Hospital Cinisello B, Italy.
  • Berkovic SF; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, F-75013 Paris, France.
  • Hildebrand MS; Unit of Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Kunz WS; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Giordano L; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Bisulli F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center (Reference Center for Rare and Complex Epilepsies-EpiCARE), Bologna, Italy.
  • Martini M; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Haucke V; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
  • Hirsch E; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia.
  • Pippucci T; Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia.
Brain ; 145(7): 2313-2331, 2022 07 29.
Article in En | MEDLINE | ID: mdl-35786744
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsies, Partial / Class II Phosphatidylinositol 3-Kinases Limits: Animals / Humans Language: En Journal: Brain Year: 2022 Document type: Article Affiliation country: Italia Country of publication: Reino Unido
Fulltext
Add to My VHL
Print
XML
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsies, Partial / Class II Phosphatidylinositol 3-Kinases Limits: Animals / Humans Language: En Journal: Brain Year: 2022 Document type: Article Affiliation country: Italia Country of publication: Reino Unido