View in EDS

The genetic and phenotypic spectrum of GABRB1-related disorders.

Saved in:
Bibliographic Details
Title: The genetic and phenotypic spectrum of GABRB1-related disorders.
Authors: Millevert C; VIB Center for Molecular Neurology, Translational Epilepsy Genomics Group, VIB 2610, Antwerp, Belgium.; Department of Neurology, University Hospital of Antwerp, Antwerp 2650, Belgium.; μNEURO Research Centre of Excellence, University of Antwerp, Antwerp 2610, Belgium., Kan ASH; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales 2050, Australia., Hanke M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany., Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany., Omidvar ME; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany., Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany., Wuttke TV; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany.; Department of Neurosurgery, University of Tübingen, Tübingen 72074, Germany., Barišić N; University Hospital Centre Split, School of Medicine, University of Zagreb, Zagreb 10000, Croatia., Lagae L; Department of Development and Regeneration, Section Pediatric Neurology, University Hospital KU Leuven, Leuven 3000, Belgium., Aledo-Serrano Á; Epilepsy and Neurogenetics Program, Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid 28010, Spain., Niehoff EM; Centre for Child and Adolescent Health, Helios Klinikum Krefeld (HKK), Krefeld 47805, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany., Zacher P; Epilepsy Center Kleinwachau, Dresden-Radeberg 01454, Germany.; Department for Psychiatry and Psychotherapy II, LVR-Hospital Bonn, Bonn 53111, Germany., Polster T; Bethel Epilepsy Center, Klinik Mara I, Bielefeld 33617, Germany., Dilena R; Neurophysiopathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Monfrini E; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Dino Ferrari Center, Dept. of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy., Geneviève D; Service de Neuropédiatire, CHU Montpellier, INM, INSERM U 1298, Montpellier 34295, France.; Reference Center for Malformative Syndrome, Department of Genetics, Montpellier Hospital, Montpellier 34295, France., Roubertie A; Reference Center for Malformative Syndrome, Department of Genetics, Montpellier Hospital, Montpellier 34295, France., Bruel AL; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon 21000, France.; INSERM, Genetics of Developmental Anomalies, Université de Bourgogne, Dijon 21000, France., Mau-Them FT; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon 21000, France.; INSERM, Genetics of Developmental Anomalies, Université de Bourgogne, Dijon 21000, France., Dasouki M; Department of Pediatric Genetics, AdventHealth Medical Group, Orlando, FL 32804, USA., Cohen S; Division of Translational Medicine and Human Genetics, Hospital of University of Pennsylvania, Philadelphia, PA 19104, USA.; Genetic Diagnostic Laboratory, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Harrison AG; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ellis C; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Lebon S; Pediatric Neurology and Neurorehabilitation Unit, Dept. Woman-Mother-Child, Lausanne University Hospital and University of Lausanne, Lausanne 1011, Switzerland., He N; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, China., Meng H; Department of Neurology, the First Affiliated Hospital of Jinan University, Guangzhou 510632, China., Chebib M; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales 2050, Australia., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia, member of European Reference Network EpiCARE, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230, Denmark., Marini C; Child Neurology and Psychiatric Unit, G. Salesi Pediatric Hospital, Azienda Ospedaliero Universitaria Delle Marche, Ancona 60123, Italy., Ahring PK; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales 2050, Australia., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany., Weckhuysen S; VIB Center for Molecular Neurology, Translational Epilepsy Genomics Group, VIB 2610, Antwerp, Belgium.; Department of Neurology, University Hospital of Antwerp, Antwerp 2650, Belgium.; μNEURO Research Centre of Excellence, University of Antwerp, Antwerp 2610, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp 2610, Belgium.
Source: Brain : a journal of neurology [Brain] 2026 Feb 07; Vol. 149 (2), pp. 534-547.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40472023
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The genetic and phenotypic spectrum of GABRB1-related disorders.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Millevert+C%22">Millevert C</searchLink>; VIB Center for Molecular Neurology, Translational Epilepsy Genomics Group, VIB 2610, Antwerp, Belgium.; Department of Neurology, University Hospital of Antwerp, Antwerp 2650, Belgium.; μNEURO Research Centre of Excellence, University of Antwerp, Antwerp 2610, Belgium.<br /><searchLink fieldCode="AU" term="%22Kan+ASH%22">Kan ASH</searchLink>; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales 2050, Australia.<br /><searchLink fieldCode="AU" term="%22Hanke+M%22">Hanke M</searchLink>; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Koko+M%22">Koko M</searchLink>; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Omidvar+ME%22">Omidvar ME</searchLink>; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Hedrich+UBS%22">Hedrich UBS</searchLink>; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Wuttke+TV%22">Wuttke TV</searchLink>; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany.; Department of Neurosurgery, University of Tübingen, Tübingen 72074, Germany.<br /><searchLink fieldCode="AU" term="%22Barišić+N%22">Barišić N</searchLink>; University Hospital Centre Split, School of Medicine, University of Zagreb, Zagreb 10000, Croatia.<br /><searchLink fieldCode="AU" term="%22Lagae+L%22">Lagae L</searchLink>; Department of Development and Regeneration, Section Pediatric Neurology, University Hospital KU Leuven, Leuven 3000, Belgium.<br /><searchLink fieldCode="AU" term="%22Aledo-Serrano+Á%22">Aledo-Serrano Á</searchLink>; Epilepsy and Neurogenetics Program, Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid 28010, Spain.<br /><searchLink fieldCode="AU" term="%22Niehoff+EM%22">Niehoff EM</searchLink>; Centre for Child and Adolescent Health, Helios Klinikum Krefeld (HKK), Krefeld 47805, Germany.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Zacher+P%22">Zacher P</searchLink>; Epilepsy Center Kleinwachau, Dresden-Radeberg 01454, Germany.; Department for Psychiatry and Psychotherapy II, LVR-Hospital Bonn, Bonn 53111, Germany.<br /><searchLink fieldCode="AU" term="%22Polster+T%22">Polster T</searchLink>; Bethel Epilepsy Center, Klinik Mara I, Bielefeld 33617, Germany.<br /><searchLink fieldCode="AU" term="%22Dilena+R%22">Dilena R</searchLink>; Neurophysiopathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.<br /><searchLink fieldCode="AU" term="%22Monfrini+E%22">Monfrini E</searchLink>; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Dino Ferrari Center, Dept. of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy.<br /><searchLink fieldCode="AU" term="%22Geneviève+D%22">Geneviève D</searchLink>; Service de Neuropédiatire, CHU Montpellier, INM, INSERM U 1298, Montpellier 34295, France.; Reference Center for Malformative Syndrome, Department of Genetics, Montpellier Hospital, Montpellier 34295, France.<br /><searchLink fieldCode="AU" term="%22Roubertie+A%22">Roubertie A</searchLink>; Reference Center for Malformative Syndrome, Department of Genetics, Montpellier Hospital, Montpellier 34295, France.<br /><searchLink fieldCode="AU" term="%22Bruel+AL%22">Bruel AL</searchLink>; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon 21000, France.; INSERM, Genetics of Developmental Anomalies, Université de Bourgogne, Dijon 21000, France.<br /><searchLink fieldCode="AU" term="%22Mau-Them+FT%22">Mau-Them FT</searchLink>; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon 21000, France.; INSERM, Genetics of Developmental Anomalies, Université de Bourgogne, Dijon 21000, France.<br /><searchLink fieldCode="AU" term="%22Dasouki+M%22">Dasouki M</searchLink>; Department of Pediatric Genetics, AdventHealth Medical Group, Orlando, FL 32804, USA.<br /><searchLink fieldCode="AU" term="%22Cohen+S%22">Cohen S</searchLink>; Division of Translational Medicine and Human Genetics, Hospital of University of Pennsylvania, Philadelphia, PA 19104, USA.; Genetic Diagnostic Laboratory, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Helbig+I%22">Helbig I</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Harrison+AG%22">Harrison AG</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Ellis+C%22">Ellis C</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Dubbs+HA%22">Dubbs HA</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Marsh+ED%22">Marsh ED</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Lebon+S%22">Lebon S</searchLink>; Pediatric Neurology and Neurorehabilitation Unit, Dept. Woman-Mother-Child, Lausanne University Hospital and University of Lausanne, Lausanne 1011, Switzerland.<br /><searchLink fieldCode="AU" term="%22He+N%22">He N</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, China.<br /><searchLink fieldCode="AU" term="%22Meng+H%22">Meng H</searchLink>; Department of Neurology, the First Affiliated Hospital of Jinan University, Guangzhou 510632, China.<br /><searchLink fieldCode="AU" term="%22Chebib+M%22">Chebib M</searchLink>; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales 2050, Australia.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia, member of European Reference Network EpiCARE, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230, Denmark.<br /><searchLink fieldCode="AU" term="%22Marini+C%22">Marini C</searchLink>; Child Neurology and Psychiatric Unit, G. Salesi Pediatric Hospital, Azienda Ospedaliero Universitaria Delle Marche, Ancona 60123, Italy.<br /><searchLink fieldCode="AU" term="%22Ahring+PK%22">Ahring PK</searchLink>; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales 2050, Australia.<br /><searchLink fieldCode="AU" term="%22Lerche+H%22">Lerche H</searchLink>; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, member of European Reference Network EpiCARE, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Weckhuysen+S%22">Weckhuysen S</searchLink>; VIB Center for Molecular Neurology, Translational Epilepsy Genomics Group, VIB 2610, Antwerp, Belgium.; Department of Neurology, University Hospital of Antwerp, Antwerp 2650, Belgium.; μNEURO Research Centre of Excellence, University of Antwerp, Antwerp 2610, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp 2610, Belgium.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2026 Feb 07; Vol. 149 (2), pp. 534-547.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372537 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2156 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200068950%22">00068950 </searchLink><i>NLM ISO Abbreviation: </i>Brain <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40472023
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/brain/awaf213
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 534
    Titles:
      – TitleFull: The genetic and phenotypic spectrum of GABRB1-related disorders.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Millevert C
      – PersonEntity:
          Name:
            NameFull: Kan ASH
      – PersonEntity:
          Name:
            NameFull: Hanke M
      – PersonEntity:
          Name:
            NameFull: Koko M
      – PersonEntity:
          Name:
            NameFull: Omidvar ME
      – PersonEntity:
          Name:
            NameFull: Hedrich UBS
      – PersonEntity:
          Name:
            NameFull: Wuttke TV
      – PersonEntity:
          Name:
            NameFull: Barišić N
      – PersonEntity:
          Name:
            NameFull: Lagae L
      – PersonEntity:
          Name:
            NameFull: Aledo-Serrano Á
      – PersonEntity:
          Name:
            NameFull: Niehoff EM
      – PersonEntity:
          Name:
            NameFull: Platzer K
      – PersonEntity:
          Name:
            NameFull: Zacher P
      – PersonEntity:
          Name:
            NameFull: Polster T
      – PersonEntity:
          Name:
            NameFull: Dilena R
      – PersonEntity:
          Name:
            NameFull: Monfrini E
      – PersonEntity:
          Name:
            NameFull: Geneviève D
      – PersonEntity:
          Name:
            NameFull: Roubertie A
      – PersonEntity:
          Name:
            NameFull: Bruel AL
      – PersonEntity:
          Name:
            NameFull: Mau-Them FT
      – PersonEntity:
          Name:
            NameFull: Dasouki M
      – PersonEntity:
          Name:
            NameFull: Cohen S
      – PersonEntity:
          Name:
            NameFull: Helbig I
      – PersonEntity:
          Name:
            NameFull: Harrison AG
      – PersonEntity:
          Name:
            NameFull: Ellis C
      – PersonEntity:
          Name:
            NameFull: Dubbs HA
      – PersonEntity:
          Name:
            NameFull: Marsh ED
      – PersonEntity:
          Name:
            NameFull: Lebon S
      – PersonEntity:
          Name:
            NameFull: He N
      – PersonEntity:
          Name:
            NameFull: Meng H
      – PersonEntity:
          Name:
            NameFull: Chebib M
      – PersonEntity:
          Name:
            NameFull: Møller RS
      – PersonEntity:
          Name:
            NameFull: Marini C
      – PersonEntity:
          Name:
            NameFull: Ahring PK
      – PersonEntity:
          Name:
            NameFull: Lerche H
      – PersonEntity:
          Name:
            NameFull: Weckhuysen S
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 07
              M: 02
              Text: 2026 Feb 07
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 149
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
ResultId 1