View in EDS

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.

Saved in:
Bibliographic Details
Title: Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
Authors: Addis L; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.; Neuroscience Discovery Research, Eli Lilly and Company, Surrey, UK., Sproviero W; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK., Thomas SV; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India., Caraballo RH; Department of Neurology, Hospital de Pediatría Prof. Dr. J.P. Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina., Newhouse SJ; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Beckenham, UK.; Farr Institute of Health Informatics Research, UCL Institute of Health Informatics, University College London, London, UK., Gomez K; Department of Paediatrics, University Hospital Lewisham, Lewisham and Greenwich NHS Trust, London, UK., Hughes E; Department of Paediatric Neurosciences, Evelina London Children's Hospital, St Thomas' Hospital, London, UK., Kinali M; Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK., McCormick D; Department of Paediatric Neurosciences, Evelina London Children's Hospital, St Thomas' Hospital, London, UK., Hannan S; Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK., Cossu S; Neurosurgery Unit, Neuroscience and Neurorehabilitation Department, Bambino Gesù Children Hospital, Rome, Italy.; Neurology Unit, Pediatric Hospital A. Cao, Brotzu Hospital Trust, Cagliari, Italy., Taylor J; Barnet and Chase Farm Hospitals, London, UK., Akman CI; Division of Pediatric Neurology, College of Physicians and Surgeons of Columbia University, New York City, New York, USA., Wolf SM; Department of Neurology, Mount Sinai Health System, New York City, New York, USA., Mandelbaum DE; Departments of Pediatrics, Alpert Medical School of Brown University, Providence, Rhode Island, USA., Gupta R; Department of Paediatrics, Tunbridge Wells Hospital, Pembury, UK., van der Spek RA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Pruna D; Neurology Unit, Pediatric Hospital A. Cao, Brotzu Hospital Trust, Cagliari, Italy., Pal DK; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.
Source: Journal of medical genetics [J Med Genet] 2018 Sep; Vol. 55 (9), pp. 607-616. Date of Electronic Publication: 2018 May 22.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 29789371
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Addis+L%22">Addis L</searchLink>; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.; Neuroscience Discovery Research, Eli Lilly and Company, Surrey, UK.<br /><searchLink fieldCode="AU" term="%22Sproviero+W%22">Sproviero W</searchLink>; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Thomas+SV%22">Thomas SV</searchLink>; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.<br /><searchLink fieldCode="AU" term="%22Caraballo+RH%22">Caraballo RH</searchLink>; Department of Neurology, Hospital de Pediatría Prof. Dr. J.P. Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Newhouse+SJ%22">Newhouse SJ</searchLink>; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Beckenham, UK.; Farr Institute of Health Informatics Research, UCL Institute of Health Informatics, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Gomez+K%22">Gomez K</searchLink>; Department of Paediatrics, University Hospital Lewisham, Lewisham and Greenwich NHS Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Hughes+E%22">Hughes E</searchLink>; Department of Paediatric Neurosciences, Evelina London Children's Hospital, St Thomas' Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Kinali+M%22">Kinali M</searchLink>; Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22McCormick+D%22">McCormick D</searchLink>; Department of Paediatric Neurosciences, Evelina London Children's Hospital, St Thomas' Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Hannan+S%22">Hannan S</searchLink>; Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Cossu+S%22">Cossu S</searchLink>; Neurosurgery Unit, Neuroscience and Neurorehabilitation Department, Bambino Gesù Children Hospital, Rome, Italy.; Neurology Unit, Pediatric Hospital A. Cao, Brotzu Hospital Trust, Cagliari, Italy.<br /><searchLink fieldCode="AU" term="%22Taylor+J%22">Taylor J</searchLink>; Barnet and Chase Farm Hospitals, London, UK.<br /><searchLink fieldCode="AU" term="%22Akman+CI%22">Akman CI</searchLink>; Division of Pediatric Neurology, College of Physicians and Surgeons of Columbia University, New York City, New York, USA.<br /><searchLink fieldCode="AU" term="%22Wolf+SM%22">Wolf SM</searchLink>; Department of Neurology, Mount Sinai Health System, New York City, New York, USA.<br /><searchLink fieldCode="AU" term="%22Mandelbaum+DE%22">Mandelbaum DE</searchLink>; Departments of Pediatrics, Alpert Medical School of Brown University, Providence, Rhode Island, USA.<br /><searchLink fieldCode="AU" term="%22Gupta+R%22">Gupta R</searchLink>; Department of Paediatrics, Tunbridge Wells Hospital, Pembury, UK.<br /><searchLink fieldCode="AU" term="%22van+der+Spek+RA%22">van der Spek RA</searchLink>; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pruna+D%22">Pruna D</searchLink>; Neurology Unit, Pediatric Hospital A. Cao, Brotzu Hospital Trust, Cagliari, Italy.<br /><searchLink fieldCode="AU" term="%22Pal+DK%22">Pal DK</searchLink>; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2018 Sep; Vol. 55 (9), pp. 607-616. <i>Date of Electronic Publication: </i>2018 May 22.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=29789371
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1136/jmedgenet-2018-105319
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 607
    Titles:
      – TitleFull: Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Addis L
      – PersonEntity:
          Name:
            NameFull: Sproviero W
      – PersonEntity:
          Name:
            NameFull: Thomas SV
      – PersonEntity:
          Name:
            NameFull: Caraballo RH
      – PersonEntity:
          Name:
            NameFull: Newhouse SJ
      – PersonEntity:
          Name:
            NameFull: Gomez K
      – PersonEntity:
          Name:
            NameFull: Hughes E
      – PersonEntity:
          Name:
            NameFull: Kinali M
      – PersonEntity:
          Name:
            NameFull: McCormick D
      – PersonEntity:
          Name:
            NameFull: Hannan S
      – PersonEntity:
          Name:
            NameFull: Cossu S
      – PersonEntity:
          Name:
            NameFull: Taylor J
      – PersonEntity:
          Name:
            NameFull: Akman CI
      – PersonEntity:
          Name:
            NameFull: Wolf SM
      – PersonEntity:
          Name:
            NameFull: Mandelbaum DE
      – PersonEntity:
          Name:
            NameFull: Gupta R
      – PersonEntity:
          Name:
            NameFull: van der Spek RA
      – PersonEntity:
          Name:
            NameFull: Pruna D
      – PersonEntity:
          Name:
            NameFull: Pal DK
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: 2018 Sep
              Type: published
              Y: 2018
          Identifiers:
            – Type: issn-electronic
              Value: 1468-6244
          Numbering:
            – Type: volume
              Value: 55
            – Type: issue
              Value: 9
          Titles:
            – TitleFull: Journal of medical genetics
              Type: main
ResultId 1