{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T17:21:14Z","timestamp":1776100874007,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003554","name":"Lundbeck Foundation","doi-asserted-by":"publisher","award":["R383\u20102022\u2010276"],"award-info":[{"award-number":["R383\u20102022\u2010276"]}],"id":[{"id":"10.13039\/501100003554","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Pathogenic variants in \u03b3\u2010aminobutyric acid type A (GABA\n                      <jats:sub>A<\/jats:sub>\n                      ) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain\u2010of\u2010function (GoF) and loss\u2010of\u2010function (LoF) variants in\n                      <jats:italic>GABRB2<\/jats:italic>\n                      and\n                      <jats:italic>GABRB3<\/jats:italic>\n                      , and to develop a risk\u2010prediction model for gross motor dysfunction based on age at seizure onset.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical data, including seizure onset, epilepsy syndromes, cognitive outcomes, and gross motor function classification system (GMFCS), were collected through direct interviews, physician reports, and literature review. Kruskal\u2013Wallis, Mantel\u2013Cox and non\u2010parametric analysis of variance (ANOVA) with Dunn's corrected post hoc tests were used for statistical comparisons. A logistic ordinal regression model was developed to predict GMFCS outcomes based on age at seizure onset.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We analyzed a cohort of 117 individuals with pathogenic\n                      <jats:italic>GABRB2<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200949) and\n                      <jats:italic>GABRB3<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200968) variants. Fifty\u2010three individuals carried GoF variants and 64 carried LoF variants. The GoF group was associated with earlier seizure onset, higher seizure frequency, and lower rates of seizure freedom. Gross motor dysfunction was markedly worse in the GoF group, with 64% classified as GMFCS IV or V (non\u2010ambulation), compared to 7.5% in the LoF group. An inverse correlation was found between age at seizure onset and GMFCS severity in the GoF, but not the LOF group. The risk model predicted a &gt;90% likelihood of non\u2010ambulation for individuals with GoF variants and seizure onset before 1\u2009month of age, decreasing to ~35% with seizure onset after 20\u2009months.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      We found a clear genotype\u2013phenotype correlation in\n                      <jats:italic>GABRB2\u2010<\/jats:italic>\n                      and\n                      <jats:italic>GABRB3<\/jats:italic>\n                      \u2010related disorders, demonstrating that GoF variants are associated with a more severe neurodevelopmental trajectory. The age at seizure onset serves as a biomarker for predicting motor outcomes in individuals with GoF variants. These findings provide guidance regarding prognosis, need for early intervention, and data for comparison of efficacy in targeted therapeutic interventions for GABA\n                      <jats:sub>A<\/jats:sub>\n                      receptor\u2013related disorders.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epi.70096","type":"journal-article","created":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T10:08:46Z","timestamp":1769594926000},"page":"1945-1960","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic\n                    <i>GABRB2<\/i>\n                    and\n                    <i>GABRB3<\/i>\n                    variants"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3432-1932","authenticated-orcid":false,"given":"Sebastian","family":"Ortiz","sequence":"first","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE  Dianalund Denmark"},{"name":"Department of Regional Health Research, Faculty of Health Sciences University of Southern Denmark  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7653-9907","authenticated-orcid":false,"given":"Leonardo","family":"Affronte","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE  Dianalund Denmark"},{"name":"Child Neuropsychiatry IRCCS, Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6782-8912","authenticated-orcid":false,"given":"Chiara","family":"Bagliani","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE  Dianalund Denmark"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa  Genoa Italy"},{"name":"Child Neuropsychiatry Unit IRCCS, Istituto Giannina Gaslini, Full Member of the European Reference Network EpiCARE  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6072-4102","authenticated-orcid":false,"given":"Serene","family":"El\u2010Kamand","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre The University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3563-7112","authenticated-orcid":false,"given":"Anthony Sze Hon","family":"Kan","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre The University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7788-9605","authenticated-orcid":false,"given":"Isabel T.","family":"Kristoffersen","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre The University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-2672-287X","authenticated-orcid":false,"given":"Rebekka S.","family":"Dahl","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE  Dianalund Denmark"},{"name":"Department of Regional Health Research, Faculty of Health Sciences University of Southern Denmark  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne F.","family":"H\u00f8jte","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE  Dianalund Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3874-9749","authenticated-orcid":false,"given":"St\u00e9phane","family":"Auvin","sequence":"additional","affiliation":[{"name":"INSERM NeuroDiderot, DMU Innov\u2010RDB, Neurologie P\u00e9diatrique, AP\u2010HP, H\u00f4pital Robert\u2010Debr\u00e9, Member of European Reference Network EpiCARE Universit\u00e9 de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9560-6333","authenticated-orcid":false,"given":"Arjan","family":"Bouman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8597-2359","authenticated-orcid":false,"given":"Shimriet","family":"Zeidler","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1234-994X","authenticated-orcid":false,"given":"Gerhard","family":"Kluger","sequence":"additional","affiliation":[{"name":"Center for Pediatric Neurology, Neurorehabilitation, and Epileptology Schoen\u2010Clinic  Vogtareuth Germany"},{"name":"Children's Hospital Salzburg Research Institute \u201cRehabilitation, Transition and Palliation\u201d PMU Salzburg  Salzburg Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7691-9492","authenticated-orcid":false,"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[{"name":"Genetics Department Hospices Civils de Lyon, Member of ERN EpiCARE  Lyon France"},{"name":"Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315 Universit\u00e9 Claude Bernard Lyon 1  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0538-0981","authenticated-orcid":false,"given":"Nicolas","family":"Chatron","sequence":"additional","affiliation":[{"name":"Genetics Department Hospices Civils de Lyon, Member of ERN EpiCARE  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0901-4161","authenticated-orcid":false,"given":"Zeynep","family":"Goke\u2010Samar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology H\u00f4pital Femme M\u00e8re Enfant, Member of ERN EpiCARE, University Hospitals of Lyon (HCL)  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2076-5006","authenticated-orcid":false,"given":"Maria T.","family":"Papadopoulou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology H\u00f4pital Femme M\u00e8re Enfant, Member of ERN EpiCARE, University Hospitals of Lyon (HCL)  Lyon France"},{"name":"CNRS, INSERM, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, EDUWELL Universit\u00e9 Claude Bernard Lyon 1  Bron 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Medical Genomics, Centre for Genomic Medicine King Faisal Specialist Hospital and Research Centre  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saud","family":"Takroni","sequence":"additional","affiliation":[{"name":"Department of Medical Genomics, Centre for Genomic Medicine King Faisal Specialist Hospital and Research Centre  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hesham","family":"Al\u2010Dhalaan","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Center for Autism Research King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9448-9059","authenticated-orcid":false,"given":"Paolo","family":"Bonanni","sequence":"additional","affiliation":[{"name":"Epilepsy and Clinical Neurophysiology Unit, Scientific Institute for Research, Hospitalization and Healthcare IRCCS, E. Medea, IRCCS Eugenio Medea  Conegliano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4098-7844","authenticated-orcid":false,"given":"Alessandra","family":"Rossi","sequence":"additional","affiliation":[{"name":"Epilepsy and Clinical Neurophysiology Unit, Scientific Institute for Research, Hospitalization and Healthcare IRCCS, E. Medea, IRCCS Eugenio Medea  Conegliano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2563-8209","authenticated-orcid":false,"given":"Nicoletta","family":"Zanotta","sequence":"additional","affiliation":[{"name":"Unit of Clinical Neurophysiology and Epilepsy Centre IRCCS E. Medea  Lecco Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-8581","authenticated-orcid":false,"given":"Marina","family":"Trivisano","sequence":"additional","affiliation":[{"name":"Neurology, Epilepsy and Movement Disorders Unit Bambino Ges\u00f9 Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8120-0287","authenticated-orcid":false,"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[{"name":"Neurology, Epilepsy and Movement Disorders Unit Bambino Ges\u00f9 Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8526-1511","authenticated-orcid":false,"given":"Angela","family":"de Dominicis","sequence":"additional","affiliation":[{"name":"Neurology, Epilepsy and Movement Disorders Unit Bambino Ges\u00f9 Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa  Genoa Italy"},{"name":"Pediatric Neurology and Muscular Diseases Unit, Full Member of the European Reference Network EpiCARE IRCCS Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5256-6573","authenticated-orcid":false,"given":"Alessandro","family":"Orsini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology University Hospital of Pisa, Azienda Ospedaliero Universitaria Pisana  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5122-4029","authenticated-orcid":false,"given":"Maria Margherita","family":"Mancardi","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Full Member ERN EpiCARE IRCCS Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2979-3764","authenticated-orcid":false,"given":"Sebastian","family":"Neuens","sequence":"additional","affiliation":[{"name":"Department of Genetics H\u00f4pital Universitaire Des Enfants Reine Fabiola, H\u00f4pital Universitaire de Bruxelles, Universit\u00e9 Libre de Bruxelles  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2611-3833","authenticated-orcid":false,"given":"Melanie","family":"Jennesson\u2010Lyver","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology American Memorial Hospital, CHU Reims  Reims France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-6670-3555","authenticated-orcid":false,"given":"Ira","family":"Benkel\u2010Herrenbrueck","sequence":"additional","affiliation":[{"name":"Sana\u2010Krankenhaus D\u00fcsseldorf\u2010Gerresheim Academic Teaching Hospital der Heinrich\u2010Heine\u2010University D\u00fcsseldorf  D\u00fcsseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6928-6287","authenticated-orcid":false,"given":"David","family":"Genevieve","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Inserm U1183, Centre de R\u00e9f\u00e9rence \u00abAnomalies du D\u00e9veloppement et Syndromes Malformatifs\u00bb University Hospital of Montpellier, Montpellier University  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Sidlow","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Metabolism Valley Children's Hospital  Madera California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamer","family":"Tezcan","sequence":"additional","affiliation":[{"name":"Department of Genetics Kaiser Permanente  Sacramento California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9168-7615","authenticated-orcid":false,"given":"Ilona","family":"Krey","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Leipzig Medical Center  Leipzig Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4435-6610","authenticated-orcid":false,"given":"Johannes R.","family":"Lemke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Leipzig Medical Center  Leipzig Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6127-6308","authenticated-orcid":false,"given":"Konrad","family":"Platzer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Leipzig Medical Center  Leipzig Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6874-6322","authenticated-orcid":false,"given":"Damien","family":"Lederer","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique  Gosselies 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J.","family":"Braun","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Neurosurgery University Medical Center, Utrecht Brain Center, University Medical Center Utrecht, Utrecht University  Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4145-7408","authenticated-orcid":false,"given":"Anne\u2010Marie","family":"Guerrot","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen Univ Rouen Normandie, Normandie Univ  Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"More","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie N\u00e9onatale R\u00e9animation P\u00e9diatrique Centre Hospitalier Universitaire de Rouen  Rouen 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Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2260-3078","authenticated-orcid":false,"given":"Evelina","family":"Carapancea","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience Universit\u00e9 Catholique de Louvain  Brussels Belgium"},{"name":"Division of Pediatric Neurology, Department of Pediatrics Saint\u2010Luc University Hospital, Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2481-8053","authenticated-orcid":false,"given":"Maria Roberta","family":"Cilio","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience Universit\u00e9 Catholique de Louvain  Brussels Belgium"},{"name":"Division of Pediatric Neurology, Department of Pediatrics Saint\u2010Luc University Hospital, Universit\u00e9 Catholique de Louvain  Brussels 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