View in EDS

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.

Saved in:
Bibliographic Details
Title: Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Authors: Raviglione F; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy. Electronic address: fraviglione@asst-rhodense.it., Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK; Member of ERN-ITHACA., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Mingarelli A; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy., D'Arrigo S; 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; Member of ERN EpiCARE., Darra F; Child Neuropsychiatry Unit, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy., Giglio S; Department of Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Florence, Italy., Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Pantaleoni C; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Mastrangelo M; Paediatric Neurology Unit, Department of Pediatrics, Children's Hospital Vittore Buzzi, Milan, Italy., Epifanio R; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy., Elia M; Oasi Research Institute- IRCCS, Troina, Italy., Saletti V; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Morlino S; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo 71013, Italy., Vari MS; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., De Liso P; Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy; Member of ERN EpiCARE., Pavaine J; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK., Spaccini L; Clinical Genetics Service, Department of Pediatrics, Vittore Buzzi Hospital, Milan, Italy., Cattaneo E; Clinical Genetics Service, Department of Pediatrics, Vittore Buzzi Hospital, Milan, Italy., Gardella E; The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE., Møller RS; The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE., Marchese F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Colonna C; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy., Gandioli C; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy., Gobbi G; Child Neurology Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy., Ram D; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Palumbo O; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo 71013, Italy., Carella M; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo 71013, Italy., Germano M; Maternal and Pediatric Department, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo (FG) 71013, Italy., Tonduti D; Paediatric Neurology Unit, Department of Pediatrics, Children's Hospital Vittore Buzzi, Milan, Italy., De Angelis D; Pediatric Department, 'Sapienza' University of Rome, Rome 00185, Italy., Caputo D; Department of Health Sciences, Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, University of Medicine, Milan, Italy; Member of ERN EpiCARE., Bergonzini P; Department of Pediatrics, Ospedale Policlinico, University of Modena, Italy., Novara F; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Verrotti A; Department of Pediatrics, San Salvatore Hospital, University of L'Aquila, L'Aquila, Italy., Orsini A; Pediatric Neurology Santa Chiara Hospital, University of Pisa, Pisa, Italy., Bonuccelli A; Pediatric Neurology Santa Chiara Hospital, University of Pisa, Pisa, Italy., De Muto MC; Pediatric Neurology Santa Chiara Hospital, University of Pisa, Pisa, Italy., Trivisano M; Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy; Member of ERN EpiCARE., Vigevano F; Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy; Member of ERN EpiCARE., Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Member of ERN EpiCARE., Bernardina BD; Child Neuropsychiatry Unit, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy., Tranchina A; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Source: Seizure [Seizure] 2021 May; Vol. 88, pp. 60-72. Date of Electronic Publication: 2021 Mar 30.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 33831796
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Raviglione+F%22">Raviglione F</searchLink>; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy. Electronic address: fraviglione@asst-rhodense.it.<br /><searchLink fieldCode="AU" term="%22Douzgou+S%22">Douzgou S</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK; Member of ERN-ITHACA.<br /><searchLink fieldCode="AU" term="%22Scala+M%22">Scala M</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Mingarelli+A%22">Mingarelli A</searchLink>; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22D'Arrigo+S%22">D'Arrigo S</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Freri+E%22">Freri E</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Member of ERN EpiCARE.<br /><searchLink fieldCode="AU" term="%22Darra+F%22">Darra F</searchLink>; Child Neuropsychiatry Unit, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Giglio+S%22">Giglio S</searchLink>; Department of Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Bonaglia+MC%22">Bonaglia MC</searchLink>; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Pantaleoni+C%22">Pantaleoni C</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Mastrangelo+M%22">Mastrangelo M</searchLink>; Paediatric Neurology Unit, Department of Pediatrics, Children's Hospital Vittore Buzzi, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Epifanio+R%22">Epifanio R</searchLink>; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Elia+M%22">Elia M</searchLink>; Oasi Research Institute- IRCCS, Troina, Italy.<br /><searchLink fieldCode="AU" term="%22Saletti+V%22">Saletti V</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Morlino+S%22">Morlino S</searchLink>; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo 71013, Italy.<br /><searchLink fieldCode="AU" term="%22Vari+MS%22">Vari MS</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22De+Liso+P%22">De Liso P</searchLink>; Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy; Member of ERN EpiCARE.<br /><searchLink fieldCode="AU" term="%22Pavaine+J%22">Pavaine J</searchLink>; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Spaccini+L%22">Spaccini L</searchLink>; Clinical Genetics Service, Department of Pediatrics, Vittore Buzzi Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Cattaneo+E%22">Cattaneo E</searchLink>; Clinical Genetics Service, Department of Pediatrics, Vittore Buzzi Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Gardella+E%22">Gardella E</searchLink>; The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE.<br /><searchLink fieldCode="AU" term="%22Marchese+F%22">Marchese F</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Colonna+C%22">Colonna C</searchLink>; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Gandioli+C%22">Gandioli C</searchLink>; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Gobbi+G%22">Gobbi G</searchLink>; Child Neurology Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Ram+D%22">Ram D</searchLink>; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Palumbo+O%22">Palumbo O</searchLink>; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo 71013, Italy.<br /><searchLink fieldCode="AU" term="%22Carella+M%22">Carella M</searchLink>; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo 71013, Italy.<br /><searchLink fieldCode="AU" term="%22Germano+M%22">Germano M</searchLink>; Maternal and Pediatric Department, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo (FG) 71013, Italy.<br /><searchLink fieldCode="AU" term="%22Tonduti+D%22">Tonduti D</searchLink>; Paediatric Neurology Unit, Department of Pediatrics, Children's Hospital Vittore Buzzi, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22De+Angelis+D%22">De Angelis D</searchLink>; Pediatric Department, 'Sapienza' University of Rome, Rome 00185, Italy.<br /><searchLink fieldCode="AU" term="%22Caputo+D%22">Caputo D</searchLink>; Department of Health Sciences, Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, University of Medicine, Milan, Italy; Member of ERN EpiCARE.<br /><searchLink fieldCode="AU" term="%22Bergonzini+P%22">Bergonzini P</searchLink>; Department of Pediatrics, Ospedale Policlinico, University of Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Novara+F%22">Novara F</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Zuffardi+O%22">Zuffardi O</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Verrotti+A%22">Verrotti A</searchLink>; Department of Pediatrics, San Salvatore Hospital, University of L'Aquila, L'Aquila, Italy.<br /><searchLink fieldCode="AU" term="%22Orsini+A%22">Orsini A</searchLink>; Pediatric Neurology Santa Chiara Hospital, University of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Bonuccelli+A%22">Bonuccelli A</searchLink>; Pediatric Neurology Santa Chiara Hospital, University of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22De+Muto+MC%22">De Muto MC</searchLink>; Pediatric Neurology Santa Chiara Hospital, University of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Trivisano+M%22">Trivisano M</searchLink>; Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy; Member of ERN EpiCARE.<br /><searchLink fieldCode="AU" term="%22Vigevano+F%22">Vigevano F</searchLink>; Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy; Member of ERN EpiCARE.<br /><searchLink fieldCode="AU" term="%22Granata+T%22">Granata T</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Member of ERN EpiCARE.<br /><searchLink fieldCode="AU" term="%22Bernardina+BD%22">Bernardina BD</searchLink>; Child Neuropsychiatry Unit, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Tranchina+A%22">Tranchina A</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229306979%22">Seizure</searchLink> [Seizure] 2021 May; Vol. 88, pp. 60-72. <i>Date of Electronic Publication: </i>2021 Mar 30.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Multicenter Study
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9306979 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1532-2688 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210591311%22">10591311 </searchLink><i>NLM ISO Abbreviation: </i>Seizure <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33831796
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.seizure.2021.03.025
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 60
    Titles:
      – TitleFull: Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Raviglione F
      – PersonEntity:
          Name:
            NameFull: Douzgou S
      – PersonEntity:
          Name:
            NameFull: Scala M
      – PersonEntity:
          Name:
            NameFull: Mingarelli A
      – PersonEntity:
          Name:
            NameFull: D'Arrigo S
      – PersonEntity:
          Name:
            NameFull: Freri E
      – PersonEntity:
          Name:
            NameFull: Darra F
      – PersonEntity:
          Name:
            NameFull: Giglio S
      – PersonEntity:
          Name:
            NameFull: Bonaglia MC
      – PersonEntity:
          Name:
            NameFull: Pantaleoni C
      – PersonEntity:
          Name:
            NameFull: Mastrangelo M
      – PersonEntity:
          Name:
            NameFull: Epifanio R
      – PersonEntity:
          Name:
            NameFull: Elia M
      – PersonEntity:
          Name:
            NameFull: Saletti V
      – PersonEntity:
          Name:
            NameFull: Morlino S
      – PersonEntity:
          Name:
            NameFull: Vari MS
      – PersonEntity:
          Name:
            NameFull: De Liso P
      – PersonEntity:
          Name:
            NameFull: Pavaine J
      – PersonEntity:
          Name:
            NameFull: Spaccini L
      – PersonEntity:
          Name:
            NameFull: Cattaneo E
      – PersonEntity:
          Name:
            NameFull: Gardella E
      – PersonEntity:
          Name:
            NameFull: Møller RS
      – PersonEntity:
          Name:
            NameFull: Marchese F
      – PersonEntity:
          Name:
            NameFull: Colonna C
      – PersonEntity:
          Name:
            NameFull: Gandioli C
      – PersonEntity:
          Name:
            NameFull: Gobbi G
      – PersonEntity:
          Name:
            NameFull: Ram D
      – PersonEntity:
          Name:
            NameFull: Palumbo O
      – PersonEntity:
          Name:
            NameFull: Carella M
      – PersonEntity:
          Name:
            NameFull: Germano M
      – PersonEntity:
          Name:
            NameFull: Tonduti D
      – PersonEntity:
          Name:
            NameFull: De Angelis D
      – PersonEntity:
          Name:
            NameFull: Caputo D
      – PersonEntity:
          Name:
            NameFull: Bergonzini P
      – PersonEntity:
          Name:
            NameFull: Novara F
      – PersonEntity:
          Name:
            NameFull: Zuffardi O
      – PersonEntity:
          Name:
            NameFull: Verrotti A
      – PersonEntity:
          Name:
            NameFull: Orsini A
      – PersonEntity:
          Name:
            NameFull: Bonuccelli A
      – PersonEntity:
          Name:
            NameFull: De Muto MC
      – PersonEntity:
          Name:
            NameFull: Trivisano M
      – PersonEntity:
          Name:
            NameFull: Vigevano F
      – PersonEntity:
          Name:
            NameFull: Granata T
      – PersonEntity:
          Name:
            NameFull: Bernardina BD
      – PersonEntity:
          Name:
            NameFull: Tranchina A
      – PersonEntity:
          Name:
            NameFull: Striano P
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: 2021 May
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 1532-2688
          Numbering:
            – Type: volume
              Value: 88
          Titles:
            – TitleFull: Seizure
              Type: main
ResultId 1