{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T19:15:06Z","timestamp":1791486906042,"version":"4.3.4"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T00:00:00Z","timestamp":1755129600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K08NS123552"],"award-info":[{"award-number":["K08NS123552"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS127108"],"award-info":[{"award-number":["R01NS127108"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017026","name":"Spastic Paraplegia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017026","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Cure AP-4 Foundation"},{"name":"Lilly and Blair Foundation"},{"name":"Cure SPG4 Foundation"},{"name":"New England Epilepsy Foundation"},{"DOI":"10.13039\/100006823","name":"the Boston Children\u2019s Hospital Translational Research Program","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006823","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["536105452"],"award-info":[{"award-number":["536105452"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Epilepsy-dyskinesia syndromes (EDS) are a complex group of neurogenetic disorders characterized by the co-occurrence of epilepsy and movement disorders. Despite their increasing clinical recognition, the molecular and clinical spectrum of EDS remains poorly understood. While numerous genetic aetiologies have been implicated, systematic characterization across diverse populations is lacking. This study aimed to delineate the molecular and clinical landscape of EDS in a large, multinational cohort, focusing on movement disorder phenomenologies, genotype-phenotype correlations, and treatment responses.<\/jats:p>\n                  <jats:p>We conducted a multicentre, cross-sectional study involving 609 patients with childhood-onset movement disorders associated with pathogenic variants in 105 predefined genes. Clinical data were collected from over 30 centres across 25 countries using a standardized survey, capturing movement disorder phenomenologies, seizure types, developmental trajectories, motor function and treatment outcomes. We classified EDS-associated genes into biologically meaningful groups by performing unsupervised clustering, which integrated protein-protein interactions and functional data. Genotype-phenotype correlations were assessed using a one-versus-remainder approach to quantify differential enrichment of clinical manifestations and treatment responses.<\/jats:p>\n                  <jats:p>Pathogenic variants were identified in 74 of the 105 predefined genes, with 12 genes accounting for two-thirds of cases. The most frequently reported genes were MECP2, ATP1A3, and GNAO1. Data-driven gene cluster analysis identified 12 functional groups, mapping EDS to relevant biological pathways and informing genotype-phenotype analyses. Dystonia (34.2%), stereotypies (24.6%) and ataxia (16.2%) were the most prevalent movement disorders, with gene- and pathway-specific movement disorder signatures extending beyond previously known associations. Notably, most patients exhibited mixed movement disorders, highlighting the phenotypic complexity of EDS. Epilepsy was diagnosed in only 66.8% of cases, suggesting that some EDS primarily manifest as movement disorders. Developmental trajectories varied by genetic aetiology. Pharmacological responses demonstrated gene- and pathway-specific treatment effects, confirming established therapeutic associations (e.g. PRRT2 variants responding to carbamazepine) and identifying previously unrecognized effects, such as exacerbation of motor symptoms with levodopa\/carbidopa in GNAO1 and MECP2 variants.<\/jats:p>\n                  <jats:p>This study provides a detailed characterization of EDS, identifying distinct genetic, phenotypic and therapeutic patterns. The findings underscore the need for early recognition of movement disorders within epilepsy cohorts, offer immediate insights to improve anticipatory guidance and clinical management of EDS, and advocate for personalized treatment strategies. By laying the groundwork for longitudinal studies to refine genotype-phenotype correlations and establish a natural history, this work paves the way for interventional clinical trials and precision medicine approaches.<\/jats:p>","DOI":"10.1093\/brain\/awaf297","type":"journal-article","created":{"date-parts":[[2025,8,8]],"date-time":"2025-08-08T12:08:54Z","timestamp":1754654934000},"page":"563-578","source":"Crossref","is-referenced-by-count":14,"title":["Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients"],"prefix":"10.1093","volume":"149","author":[{"given":"Vicente","family":"Quiroz","sequence":"first","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian E","family":"Alecu","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umar","family":"Zubair","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katerina","family":"Bernardi","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zainab","family":"Zaman","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Rong","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Tam","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avaneesh","family":"Kunta","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Habibah A P","family":"Agianda","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Battaglia","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri J D","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Resch","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noah","family":"Wyman","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsey M","family":"Vogt","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, The Hospital for Sick Children , Toronto, ON M5G 1E8 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wafa Bani","family":"Uraba","sequence":"additional","affiliation":[{"name":"Department of Child Health, Sultan Qaboos University Hospital, University Medical City , Muscat H5QC ,","place":["Oman"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonie F","family":"Becker","sequence":"additional","affiliation":[{"name":"Institute of Systems Motor Science and Center for Rare Diseases, University of L\u00fcbeck , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kavitha","family":"Kothur","sequence":"additional","affiliation":[{"name":"The Children\u2019s Hospital at Westmead Clinical School, Kids Neuroscience Centre, The University of Sydney , Westmead, NSW 2145 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak","family":"Gill","sequence":"additional","affiliation":[{"name":"The Children\u2019s Hospital at Westmead Clinical School, Kids Neuroscience Centre, The University of Sydney , Westmead, NSW 2145 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardita","family":"Suarez","sequence":"additional","affiliation":[{"name":"Instituto Nacional de Rehabilitaci\u00f3n Pedro Aguirre Cerda , Pe\u00f1alol\u00e9n 7910250 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javiera I","family":"Jofre","sequence":"additional","affiliation":[{"name":"Departamento de Pediatria, Clinica MEDS, Unidad de Neurologia Infantil , Santiago 7691236 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Arias","sequence":"additional","affiliation":[{"name":"Departamento de Pediatria, Clinica MEDS, Unidad de Neurologia Infantil , Santiago 7691236 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Castiglioni","sequence":"additional","affiliation":[{"name":"Departamento de Pediatria, Clinica MEDS, Unidad de Neurologia Infantil , Santiago 7691236 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia Dumke","family":"da Silva M\u00f6ller","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Team, Brasilia Children's Hospital Jose Alencar , Brasilia 70684-831 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Children\u2019s Hospital, Capital Medical University , Beijing 100045 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lifang","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Center for Children\u2019s Health, Beijing Children\u2019s Hospital, Capital Medical University , Beijing 100045 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changhong","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Center for Children\u2019s Health, Beijing Children\u2019s Hospital, Capital Medical University , Beijing 100045 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Zamani","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory , Kianpars, Ahvaz 61556-89467 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Malaya , Kuala Lumpur 50603 ,","place":["Malaysia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Bartolini","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation , Pisa 56128 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1668-9925","authenticated-orcid":false,"given":"Maria","family":"Stamelou","sequence":"additional","affiliation":[{"name":"Parkinson's Disease and Movement Disorders Department, HYGEIA Hospital , Athens 151 23 ,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poonam","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Barrow Neurological Institute at Phoenix Children's Hospital , Phoenix, AZ 85013 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael C","family":"Kruer","sequence":"additional","affiliation":[{"name":"Barrow Neurological Institute at Phoenix Children's Hospital , Phoenix, AZ 85013 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soaham","family":"Desai","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shree Krishna Hospital, Pramukhswami Medical College , Anand, Gujarat 388325 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Iype","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Department, Medical College Trivandrum , Thiruvananthapuram, Kerala 695011 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e1n","family":"Necp\u00e1l","sequence":"additional","affiliation":[{"name":"Department of Neurology, Zvolen Hospital , Zvolen 960 01 ,","place":["Slovakia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Crosiers","sequence":"additional","affiliation":[{"name":"Department of Neurology, Antwerp University Hospital , Edegem 2650 ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah F","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier Ricardo","family":"Perez-Sanchez","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Hospital General Universitario Gregorio Mara\u00f1\u00f3n , Madrid 28007 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra Demir","family":"Unal","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University , Ankara 06010 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuria","family":"Lopez-Ariztegui","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Neurology Department, Hospital Universitario de Toledo , Toledo 45007 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sruthi","family":"Kola","sequence":"additional","affiliation":[{"name":"Yashoda Hospitals , Hyderabad, Telangana 500082 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9016-2067","authenticated-orcid":false,"given":"Wei-Sheng","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Taipei Veterans General Hospital , Taipei 112 ,","place":["Taiwan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alia Hassan","family":"Mansour","sequence":"additional","affiliation":[{"name":"Neurology Department, Faculty of Medicine, Ain Shams University , Cairo 11591 ,","place":["Egypt"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chahnez Charfi","family":"Triki","sequence":"additional","affiliation":[{"name":"Child Neurology Department, Hedi Chaker Hospital , LR19ES15 University of Sfax, Sfax 3000 ,","place":["Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilio","family":"Fernandez-Alvarez","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Sant Joan de D\u00e9u , Barcelona 08950 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9727-3459","authenticated-orcid":false,"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[{"name":"Neurology Department, Piti\u00e9-Salp\u00eatri\u00e8re Hospital , Paris 75013 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Health, London WC1N 3BH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Kaliakatsos","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Great Ormond Street Hospital for Children \u00a0 and Developmental Neurosciences, ZCR, UCL GOS-Institute of Child Health, London WC1N 3BH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Robinson","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Great Ormond Street Hospital for Children \u00a0 and Developmental Neurosciences, ZCR, UCL GOS-Institute of Child Health, London WC1N 3BH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Hassell","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Great Ormond Street Hospital for Children \u00a0 and Developmental Neurosciences, ZCR, UCL GOS-Institute of Child Health, London WC1N 3BH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Pons","sequence":"additional","affiliation":[{"name":"Department of Neurology, Agia Sophia Children's Hospital , Athens 115 27 ,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Munchau","sequence":"additional","affiliation":[{"name":"Institute of Systems Motor Science and Center for Rare Diseases, University of L\u00fcbeck , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Soliani","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'et\u00e0 Pediatrica, Bologna 40139 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alonso","family":"Zea-Vera","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's 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,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alissa","family":"D\u2019Gama","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Loddenkemper","sequence":"additional","affiliation":[{"name":"Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6373-1068","authenticated-orcid":false,"given":"Phillip L","family":"Pearl","sequence":"additional","affiliation":[{"name":"Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shekeeb S","family":"Mohammad","sequence":"additional","affiliation":[{"name":"The Children\u2019s Hospital at Westmead Clinical School, Kids Neuroscience Centre, The University of Sydney , Westmead, NSW 2145 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju A","family":"Kurian","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Great Ormond Street Hospital for Children \u00a0 and Developmental Neurosciences, ZCR, UCL GOS-Institute of Child Health, London WC1N 3BH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Gorodetsky","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, The Hospital for Sick Children , Toronto, ON M5G 1E8 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