{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:21:31Z","timestamp":1792203691452,"version":"4.4.0"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,3,21]],"date-time":"2025-03-21T00:00:00Z","timestamp":1742515200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Biallelic pathogenic\n                      <jats:italic>MBOAT7<\/jats:italic>\n                      variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention\u2010deficit\/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We describe epilepsy features, electroencephalography, magnetic resonance imaging (MRI) findings, antiseizure treatment response, and neurodevelopment of 15 patients with biallelic\n                      <jats:italic>MBOAT7<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All 15 patients had ID or developmental delay (DD). Twelve suffered from epilepsy, with mean age at seizure onset of 36\u2009months (range =\u20092\u2009months\u20136.5\u2009years) and 10 of 12 showing signs of DD before seizure onset. Patients with epilepsy presented with focal motor seizures with impaired awareness (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20093), focal tonic\u2013clonic seizures and epileptic spasms (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091), focal to bilateral tonic\u2013clonic seizures (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091), unknown onset bilateral tonic\u2013clonic seizures (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092), myoclonic seizures (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20094), myoclonic\u2013atonic seizures (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091), atonic seizures (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091), tonic seizures (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091), and myoclonic absences (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092). Seizure freedom was achieved in 66.7% (8\/12), with variable antiseizure treatment regimes. We reviewed electroencephalograms of the patients with epilepsy. Background activity was normal in 64%, whereas 36% had either a generalized or a focal slowing. Interictal epileptiform discharges (IEDs) were reported in 83%. Generalized spikes\/polyspikes were found in 53%, multifocal IEDs in 23%, and parasagittal focal IEDs in 26%. The most frequent abnormal brain MRI findings, reported in 58% of patients, included high\u2010intensity signal in T2 and fluid\u2010attenuated inversion recovery (FLAIR) sequences in dentate nuclei and globus pallidus. Biallelic missense variants seemed to be associated with better cognitive and motor outcomes compared to truncating variants and in\u2010frame deletions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      Biallelic\n                      <jats:italic>MBOAT7<\/jats:italic>\n                      variants are associated with global developmental impairment in all affected patients and epilepsy in the majority. The seizure semiology is heterogenous. One third of our cohort had persistent seizures despite treatment. The most frequent MRI findings were hyperintensities in T2\/FLAIR sequences in dentate nuclei and globus pallidus.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/epi.18376","type":"journal-article","created":{"date-parts":[[2025,3,23]],"date-time":"2025-03-23T08:56:14Z","timestamp":1742720174000},"page":"2379-2390","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>MBOAT7<\/i>\n                    encephalopathy: Characterizing the neurology and epileptology"],"prefix":"10.1111","volume":"66","author":[{"given":"Sebastian Ortiz","family":"De la Rosa","sequence":"first","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center  Dianalund Denmark"},{"name":"Department of Pediatric Neurology, Instituto Roosevelt  Bogot\u00e1 Colombia"},{"name":"Department of Regional Health Research University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4289-0563","authenticated-orcid":false,"given":"Valentina","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center  Dianalund Denmark"},{"name":"Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology, and Pediatrics University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin\u2010Tobias","family":"Jauss","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Leipzig Medical Center  Leipzig Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Bartolomaeus","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Leipzig Medical Center  Leipzig Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Escolar","sequence":"additional","affiliation":[{"name":"Program for the Study of Neurodevelopment in Rare Disorders, University of Pittsburg Medical Center Children's Hospital of Pittsburgh University of Pittsburgh Medical Center  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Bernard","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Neurosurgery, Pediatrics, and Human Genetics McGill University  Montreal Quebec Canada"},{"name":"Child Health and Human Development Program Research Institute of McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralitza","family":"Gavrilova","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics and Neurology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Ahrens\u2010Nicklas","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and Metabolism, Children's Hospital of Philadelphia, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Lemire","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym M.","family":"Boycott","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadet","family":"Mercimek\u2010Andrews","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Prontera","sequence":"additional","affiliation":[{"name":"Medical Genetics and Rare Disease Unit, Maternal\u2010Infantile Department S. Maria Della Misericordia Hospital  Perugia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4862-4221","authenticated-orcid":false,"given":"Cinzia","family":"Costa","sequence":"additional","affiliation":[{"name":"Neurophysiopathology Unit, Department of Medicine and Surgery University of Perugia  Perugia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bojana","family":"Rakic","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Faculty of Medicine, BC Children's Hospital University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Provincial Medical Genetics Program, Department of Medical Genetics University of British Columbia, Children's and Women's Health Centre of BC  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Huynh","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Faculty of Medicine, BC Children's Hospital University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Huh","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Faculty of Medicine, BC Children's Hospital University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elliott","family":"Sherr","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Human Genetics and Weill Institute for Neurosciences University of California, San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Argilli","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Human Genetics and Weill Institute for Neurosciences University of California, San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Dar\u00edo","family":"Ortigoza\u2010Escobar","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Pediatric Neurology Department Institut de Recerca, Hospital San Joan de D\u00e9u Barcelona, Reference Center for ERN\u2010RDN  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didac","family":"Casas\u2010Alba","sequence":"additional","affiliation":[{"name":"Department of Medical Molecular Genetics Hospital San Joan de D\u00e9u Barcelona, Reference Center for ERN\u2010RDN  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Nunes","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Pediatric Neurology Department Institut de Recerca, Hospital San Joan de D\u00e9u Barcelona, Reference Center for ERN\u2010RDN  Barcelona Spain"},{"name":"Pediatric Neurology, Pediatric Department Hospital General de Vic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Koolen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne S.","family":"Khinchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Danish Epilepsy Center  Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7138-6022","authenticated-orcid":false,"given":"Elena","family":"Gardella","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center  Dianalund Denmark"},{"name":"Department of Regional Health Research University of Southern Denmark  Odense Denmark"},{"name":"Department of Neurophysiology, Danish Epilepsy Center member of the European Reference Network EpiCARE  Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina D.","family":"Fenger","sequence":"additional","affiliation":[{"name":"Department of Regional Health Research University of Southern Denmark  Odense 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Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells10112963"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.07.019"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14469"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12016"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.585053"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0907-7"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61773"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32749"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.333478"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2020.07.008"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2391"},{"key":"e_1_2_11_13_1","article-title":"Whole\u2010exome 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TurnbullC ScottRH et\u00a0al.ACGS best practice guidelines for variant classification in rare 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