ArticleNeurology2025
Phenotypic Spectrum in Individuals With Pathogenic
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Article in Neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
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Who cites it
6 citing papers in PubMed.
- Observational
- Artificial intelligence in the assessment of epilepsy-related genetic mutations: Learned from GABAEpilepsia open · 2026Review
- Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.Epilepsia · 2026Article
- Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.The Journal of clinical investigation · 2026Article
- Endophenotype Research in Epilepsy Across Time.Brain sciences · 2025Article
- Association of GABRG2 gene polymorphisms with idiopathic generalized epilepsy in Egyptian children: a case-control study.European journal of medical research · 2025Article
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Authors and funding
57 authors.
Alessandra RossiDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.
Susan X N LinBrain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia.
Nathan L AbsalomSchool of Science, University of Western Sydney, New South Wales, Australia.
Sebastian Ortiz-De la RosaDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.
Vivian W Y LiaoBrain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia.
Nazanin A MohammadiDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.
Sindhu ViswanathanDepartment of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia.
Tommy StödbergDepartment of Child Neurology, Karolinska University Hospital, Stockholm, Sweden.
Alberto DanieliIRCCS E. Medea Scientific Institute, Epilepsy Unit, Conegliano, Treviso, Italy.
Paolo BonanniIRCCS E. Medea Scientific Institute, Epilepsy Unit, Conegliano, Treviso, Italy.
Alec AebyHôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium.
Alessandro OrsiniPediatric Neurology, University Hospital of Pisa, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Alice BonuccelliPediatric Neurology, University Hospital of Pisa, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Andrea RüeggerDepartment of Neuropediatrics, University Children's Hospital Zurich, Switzerland.
Beatriz G GiraldezEpilepsy Unit, Neurology Service, Hospital Universitario and IIS Fundación Jiménez Díaz and CIBERER, Madrid, Spain.
Bertrand IsidorService de Génétique Médicale, CHU Nantes, Nantes, France.
Burkhard StüveDepartment of Neuropediatrics, Children's Hospital Siegen, Germany.
Carla MariniChild Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, Azienda Ospedaliero-Universitaria delle Marche, Ancona, Italy.
Elisabetta CesaroniChild Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, Azienda Ospedaliero-Universitaria delle Marche, Ancona, Italy.
Christina D FengerDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.
Christophe PhilippeUFR des Sciences de Santé, GAD "Génétique des Anomalies du Développement", INSERM-Université de Bourgogne UMR1231, Fédération Hospitalo-Universitaire (FHU)-TRANSLAD, Dijon, France.
Colombine MeunierCentre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
Damien LedererCentre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
Stéphanie MoortgatCentre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
Egidio SpinelliSchulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Elisa FallicaNeurology Unit, University Hospital of Ferrara, Italy.
Fiona ZeinerDepartment of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Matthias BaumanDepartment of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Laura LicchettaIRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of European Reference Network EpiCARE, Bologna, Italy.
Francesca BisulliIRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of European Reference Network EpiCARE, Bologna, Italy.
Francesca F OpertoDepartment of Science of Health School of Medicine, University of Magna Graecia Catanzaro, Italy.
Ira Benkel-HerrenbrueckSana-Krankenhaus Düsseldorf-Gerresheim, Academic Teaching Hospital der Heinrich-Heine-University Düsseldorf, Germany.
Kathleen M GormanDepartment of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
Katrine M JohannesenDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, Germany.
Franziska SchnabelInstitute of Human Genetics, University of Leipzig Medical Center, Germany.
Lieven LagaeDepartment of Development and Regeneration, Section Paediatric Neurology, University Hospital Leuven, Belgium.
Mirjam LaufsDepartment of Neuropediatrics, University Hospital Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.
Riina ZordaniaDepartment of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Estonia.
Stephen MaloneDepartment of Neurosciences, Queensland Children's Hospital, South Brisbane, Australia.
Tullio MessanaIRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichitaria dell'età Pediatrica, Bologna, Italy.
Wendy WerckxJessa Hospital, Hasselt, Belgium.
Charlotta JonssonDepartment of Pediatrics, Vrinnevi Hospital, Norrköping, Sweden.
Zaid AfawiBen-Gurion University of the Negev, Beer-Sheva, Israel.
Thomas FoiadelliPediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Italy.
Yosra HallebDepartment of Medical Genetics, Le Mans Hospital, France.
Radka StoevaDepartment of Medical Genetics, Le Mans Hospital, France.
Mélanie Jennesson-LyverDepartment of Pediatrics, CHU, Reims, France.
Gaetan LescaDepartment of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, France.
Renzo GuerriniPaediatric Neurology Unit and Laboratories, Neuroscience Department, Member of ERN Epicare and ITHACA, Meyer Children's Hospital IRCCS, Florence, Italy.
Samuel F BerkovicDepartment of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia.
Ingrid E SchefferDepartment of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia.
Mary ChebibBrain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia.
Elena GardellaDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.
Rikke S MøllerDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.
Guido RubboliDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.
Philip K AhringBrain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesVariants in the
methodsWe assembled a cohort of unreported probands carrying presumed pathogenic
resultsWe examined 44 individuals with 35 DISCUSSION: Our findings indicate that the severity of disease associated with pathogenic
Indexed as
EpilepsyGain of Function MutationLoss of Function MutationReceptors, GABA-AAdolescentAdultChildChild, PreschoolCohort StudiesFemaleHumansInfantMaleMutation, MissensePhenotypeSeizures, FebrileGABRG2 protein, humanReceptors, GABA-A
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