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Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Courage, Carolina; Oliver, Karen L; Park, Eon Joo; Cameron, Jillian M; Grabinska, Kariona A; Muona, Mikko; Canafoglia, Laura; Gambardella, Antonio; Said, Edith; Afawi, Zaid; Baykan, Betul; Brandt, Christian; di Bonaventura, Carlo; Chew, Hui Bein; Criscuolo, Chiara; Dibbens, Leanne M; Castellotti, Barbara; Riguzzi, Patrizia; Labate, Angelo; Filla, Alessandro; Giallonardo, Anna T; Berecki, Geza; Jackson, Christopher B; Joensuu, Tarja; Damiano, John A; Kivity, Sara; Korczyn, Amos; Palotie, Aarno; Striano, Pasquale; Uccellini, Davide; Giuliano, Loretta; Andermann, Eva; Scheffer, Ingrid E; Michelucci, Roberto; Bahlo, Melanie; Franceschetti, Silvana; Sessa, William C; Berkovic, Samuel F; Lehesjoki, Anna-Elina.
Afiliação
  • Courage C; Folkhälsan Research Center, Helsinki 00290, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00290, Finland.
  • Oliver KL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Victoria, Australia; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, the Univers
  • Park EJ; Department of Pharmacology and Vascular Biology and Therapeutics Program, Yale University School of Medicine, 10 Amistad Street, New Haven, CT 06520, USA.
  • Cameron JM; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Victoria, Australia.
  • Grabinska KA; Department of Pharmacology and Vascular Biology and Therapeutics Program, Yale University School of Medicine, 10 Amistad Street, New Haven, CT 06520, USA.
  • Muona M; Folkhälsan Research Center, Helsinki 00290, Finland; Blueprint Genetics, Espoo 02150, Finland.
  • Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
  • Gambardella A; Institute of Neurology, University Magna Græcia, Catanzaro 88100, Italy.
  • Said E; Section of Medical Genetics, Mater dei Hospital, Msida MSD2090, Malta; Department of Anatomy and Cell Biology, University of Malta, Msida MSD2090, Malta.
  • Afawi Z; Center for Neuroscience, Ben-Gurion University of the Negev, Be'er Sheva 8410402, Israel.
  • Baykan B; Departments of Neurology and Clinical Neurophysiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34452, Turkey.
  • Brandt C; Epilepsy Center Bethel, Bielefeld 33617, Germany.
  • di Bonaventura C; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185 Rome, Italy.
  • Chew HB; Genetics Department, Kuala Lumpur Hospital, Ministry of Health Malaysia, Jalan Pahang, 50586 Kuala Lumpur, Malaysia.
  • Criscuolo C; Department of Neuroscience, Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples 80138, Italy.
  • Dibbens LM; Epilepsy Research Group, Australian Centre for Precision Health, UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA 5000, Australia.
  • Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Istituto Neurologico Carlo Besta Milan 20133, Italy.
  • Riguzzi P; IRCCS Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna 40139, Italy.
  • Labate A; Institute of Neurology, University Magna Græcia, Catanzaro 88100, Italy.
  • Filla A; Department of Neuroscience, Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples 80138, Italy.
  • Giallonardo AT; Neurology Unit, Human Neurosciences Department, Sapienza University, Rome 00185, Italy.
  • Berecki G; Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia.
  • Jackson CB; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland.
  • Joensuu T; Folkhälsan Research Center, Helsinki 00290, Finland.
  • Damiano JA; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Victoria, Australia.
  • Kivity S; Epilepsy Unit, Schneider Children's Medical Center of Israel, Petah Tiqvah 4922297, Israel.
  • Korczyn A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 60198, Israel.
  • Palotie A; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki 00290, Finland; Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology and Department of Psychiatry Massachusetts General Hospital, Boston, MA 02114, USA; The Stanley Center f
  • Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "G. Gaslini," Genova 16147, Italy.
  • Uccellini D; Neurology - Neurophysiology Unit, ASST dei Sette Laghi, Galmarini Tradate Hospital, Tradate 21049, Italy.
  • Giuliano L; Dipartimento "G.F. Ingrassia," Università degli Studi di Catania, Catania 95131, Italy.
  • Andermann E; Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, QC H3A 2B4, Canada; Departments of Neurology & Neurosurgery and Human Genetics, McGill University, Montreal, QC H3A 0G4, Canada.
  • Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Royal Children's H
  • Michelucci R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna 40139, Italy.
  • Bahlo M; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, the University of Melbourne, Melbourne, VIC 3010, Australia.
  • Franceschetti S; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
  • Sessa WC; Department of Pharmacology and Vascular Biology and Therapeutics Program, Yale University School of Medicine, 10 Amistad Street, New Haven, CT 06520, USA.
  • Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Victoria, Australia. Electronic address: s.berkovic@unimelb.edu.au.
  • Lehesjoki AE; Folkhälsan Research Center, Helsinki 00290, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00290, Finland. Electronic address: anna-elina.lehesjoki@helsinki.fi.
Am J Hum Genet ; 108(4): 722-738, 2021 04 01.
Article em En | MEDLINE | ID: mdl-33798445
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas Progressivas / Dolicóis / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Finlândia
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas Progressivas / Dolicóis / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Finlândia