{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T07:59:28Z","timestamp":1776153568921,"version":"3.50.1"},"reference-count":38,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003625","name":"Ministry of Health and Welfare","doi-asserted-by":"publisher","award":["RS-2023-00265923"],"award-info":[{"award-number":["RS-2023-00265923"]}],"id":[{"id":"10.13039\/501100003625","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2025,8]]},"DOI":"10.1016\/j.braindev.2025.104382","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T11:44:22Z","timestamp":1750333462000},"page":"104382","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Epilepsy phenotypes and responses to antiseizure medications in pediatric patients with EEF1A2-related epilepsy"],"prefix":"10.1016","volume":"47","author":[{"given":"Hee-Jeong","family":"Yun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo Yeon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Woojoong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seungbok","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong-Hee","family":"Chae","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki Joong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung Chan","family":"Lim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2025.104382_bb0005","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/bs.apcsb.2023.10.001","article-title":"Understanding functions of eEF1 translation elongation factors beyond translation. A proteomic approach","volume":"138","author":"Negrutskii","year":"2024","journal-title":"Adv Protein Chem Struct Biol"},{"key":"10.1016\/j.braindev.2025.104382_bb0010","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.050501","article-title":"Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder","author":"Marshall","year":"2024","journal-title":"Dis Model Mech"},{"key":"10.1016\/j.braindev.2025.104382_bb0015","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1111\/j.1432-1033.1993.tb18064.x","article-title":"Tissue-dependent variation in the expression of elongation factor-1 alpha isoforms: isolation and characterisation of a cDNA encoding a novel variant of human elongation-factor 1 alpha","volume":"215","author":"Knudsen","year":"1993","journal-title":"Eur J Biochem"},{"key":"10.1016\/j.braindev.2025.104382_bb0020","doi-asserted-by":"crossref","first-page":"28951","DOI":"10.1074\/jbc.M703962200","article-title":"Translation elongation factor eEF1A2 is essential for post-weaning survival in mice","volume":"282","author":"Newbery","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1016\/j.braindev.2025.104382_bb0025","doi-asserted-by":"crossref","DOI":"10.1016\/j.mcn.2023.103879","article-title":"Endogenous epitope tagging of eEF1A2 in mice reveals early embryonic expression of eEF1A2 and subcellular compartmentalisation of neuronal eEF1A1 and eEF1A2","volume":"126","author":"Davies","year":"2023","journal-title":"Mol Cell Neurosci"},{"key":"10.1016\/j.braindev.2025.104382_bb0030","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1038\/s41431-024-01560-8","article-title":"Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study","volume":"32","author":"Paulet","year":"2024","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.braindev.2025.104382_bb0035","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2023.1218706","article-title":"Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort","volume":"14","author":"Ko","year":"2023","journal-title":"Front Neurol"},{"key":"10.1016\/j.braindev.2025.104382_bb0040","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1111\/epi.14074","article-title":"Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders","volume":"59","author":"Lindy","year":"2018","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104382_bb0045","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/s13073-019-0678-y","article-title":"Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders","volume":"11","author":"Chow","year":"2019","journal-title":"Genome Med"},{"key":"10.1016\/j.braindev.2025.104382_bb0050","doi-asserted-by":"crossref","first-page":"2496","DOI":"10.1038\/s41436-019-0531-0","article-title":"Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy","volume":"21","author":"Heyne","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2025.104382_bb0055","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"de Ligt","year":"2012","journal-title":"N Engl J Med"},{"key":"10.1016\/j.braindev.2025.104382_bb0060","doi-asserted-by":"crossref","DOI":"10.1016\/j.yebeh.2020.106955","article-title":"EEF1A2 mutations in epileptic encephalopathy\/intellectual disability: understanding the potential mechanism of phenotypic variation","volume":"105","author":"Long","year":"2020","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.braindev.2025.104382_bb0065","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1002\/humu.24015","article-title":"Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy","volume":"41","author":"Carvill","year":"2020","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2025.104382_bb0070","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1111\/cge.12394","article-title":"De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy","volume":"87","author":"Nakajima","year":"2015","journal-title":"Clin Genet"},{"key":"10.1016\/j.braindev.2025.104382_bb0075","doi-asserted-by":"crossref","first-page":"3106","DOI":"10.1002\/ajmg.a.62932","article-title":"EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support","volume":"188","author":"Vogt","year":"2022","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2025.104382_bb0080","doi-asserted-by":"crossref","first-page":"1492","DOI":"10.1038\/s41436-021-01153-6","article-title":"The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals","volume":"23","author":"Zacher","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2025.104382_bb0085","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2020.104121","article-title":"Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder","volume":"64","author":"Kaneko","year":"2021","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.braindev.2025.104382_bb0090","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.braindev.2019.08.001","article-title":"Mild epileptic phenotype associates with de novo eef1a2 mutation: case report and review","volume":"42","author":"De Rinaldis","year":"2020","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2025.104382_bb0095","doi-asserted-by":"crossref","first-page":"2476","DOI":"10.1002\/ccr3.2511","article-title":"Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient","volume":"7","author":"Kaur","year":"2019","journal-title":"Clin Case Rep"},{"key":"10.1016\/j.braindev.2025.104382_bb0100","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1038\/s41525-018-0061-8","article-title":"Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy","volume":"3","author":"Ostrander","year":"2018","journal-title":"NPJ Genom Med"},{"key":"10.1016\/j.braindev.2025.104382_bb0105","article-title":"Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant","volume":"6","author":"Lance","year":"2018","journal-title":"SAGE Open Med Case Rep"},{"key":"10.1016\/j.braindev.2025.104382_bb0110","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/jmedgenet-2015-103568","article-title":"Identification of novel genetic causes of Rett syndrome-like phenotypes","volume":"53","author":"Lopes","year":"2016","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2025.104382_bb0115","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1002\/mgg3.219","article-title":"Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability","volume":"4","author":"Lam","year":"2016","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.braindev.2025.104382_bb0120","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.braindev.2015.11.003","article-title":"Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations","volume":"38","author":"Inui","year":"2016","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2025.104382_bb0125","doi-asserted-by":"crossref","DOI":"10.1016\/j.yebeh.2020.107085","article-title":"Predicting epileptic encephalopathy using mutation site analysis and in silico algorithms","volume":"109","author":"Inui","year":"2020","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.braindev.2025.104382_bb0130","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1038\/gim.2015.186","article-title":"Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy","volume":"18","author":"Helbig","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2025.104382_bb0135","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1002\/mgg3.235","article-title":"Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients","volume":"4","author":"de Kovel","year":"2016","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.braindev.2025.104382_bb0140","doi-asserted-by":"crossref","first-page":"5595","DOI":"10.1038\/ncomms6595","article-title":"Recurrent de novo mutations implicate novel genes underlying simplex autism risk","volume":"5","author":"O\u2019Roak","year":"2014","journal-title":"Nat Commun"},{"key":"10.1016\/j.braindev.2025.104382_bb0145","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1111\/epi.12201","article-title":"Exome sequencing reveals new causal mutations in children with epileptic encephalopathies","volume":"54","author":"Veeramah","year":"2013","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104382_bb0150","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.eplepsyres.2018.02.003","article-title":"Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy","volume":"141","author":"Ko","year":"2018","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.braindev.2025.104382_bb0155","doi-asserted-by":"crossref","first-page":"988","DOI":"10.3389\/fneur.2019.00988","article-title":"Diagnostic yield of epilepsy panel testing in patients with seizure onset within the first year of life","volume":"10","author":"Jang","year":"2019","journal-title":"Front Neurol"},{"key":"10.1016\/j.braindev.2025.104382_bb0160","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2025.104382_bb0165","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1111\/epi.17236","article-title":"ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions","volume":"63","author":"Hirsch","year":"2022","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104382_bb0170","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1111\/epi.17240","article-title":"International league against epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE task force on nosology and definitions","volume":"63","author":"Riney","year":"2022","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104382_bb0175","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1111\/epi.17241","article-title":"International league against epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE task force on nosology and definitions","volume":"63","author":"Specchio","year":"2022","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104382_bb0180","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1111\/epi.17239","article-title":"ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE task force on nosology and definitions","volume":"63","author":"Zuberi","year":"2022","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104382_bb0185","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1111\/epi.13671","article-title":"Instruction manual for the ILAE 2017 operational classification of seizure types","volume":"58","author":"Fisher","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104382_bb0190","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1002\/epi4.12993","article-title":"Broadening the scope of multigene panel analysis for adult epilepsy patients","volume":"9","author":"Lee","year":"2024","journal-title":"Epilepsia Open"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760425000646?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760425000646?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T12:33:22Z","timestamp":1765456402000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760425000646"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":38,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["S0387760425000646"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2025.104382","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Epilepsy phenotypes and responses to antiseizure medications in pediatric patients with EEF1A2-related epilepsy","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2025.104382","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Japanese Society of Child Neurology. Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"104382"}}