{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T07:17:56Z","timestamp":1785827876804,"version":"3.56.0"},"reference-count":16,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.1016\/j.ejmg.2020.103970","type":"journal-article","created":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T21:39:45Z","timestamp":1591738785000},"page":"103970","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS)"],"prefix":"10.1016","volume":"63","author":[{"given":"Siddharth","family":"Gupta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Schwab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Valdez-Gonzalez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Segal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ejmg.2020.103970_bib1","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s10048-019-00572-7","article-title":"Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia","volume":"20","author":"Accogli","year":"2019","journal-title":"Neurogenetics"},{"issue":"1","key":"10.1016\/j.ejmg.2020.103970_bib2","doi-asserted-by":"crossref","first-page":"e12","DOI":"10.1111\/epi.13250","article-title":"Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion","volume":"57","author":"Allen","year":"2016","journal-title":"Epilepsia"},{"issue":"3","key":"10.1016\/j.ejmg.2020.103970_bib3","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/s10048-014-0411-3","article-title":"AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset","volume":"15","author":"Armstrong","year":"2014","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ejmg.2020.103970_bib4","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.pediatrneurol.2018.09.010","article-title":"Novel homozygous mutation of the AIMP1 gene: a milder neuroimaging phenotype with preservation of the deep white matter","volume":"91","author":"BoAli","year":"2019","journal-title":"Pediatr. Neurol."},{"issue":"6","key":"10.1016\/j.ejmg.2020.103970_bib5","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1002\/ana.25619","article-title":"The genetic landscape of epilepsy of infancy with migrating focal seizures","volume":"86","author":"Burgess","year":"2019","journal-title":"Ann. Neurol."},{"issue":"6","key":"10.1016\/j.ejmg.2020.103970_bib6","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1016\/j.ajhg.2010.10.016","article-title":"Pelizaeus-Merzbacher-like disease caused by AIMP1\/p43 homozygous mutation","volume":"87","author":"Feinstein","year":"2010","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2020.103970_bib7","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1038\/ejhg.2015.148","article-title":"Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration","volume":"24","author":"Iqbal","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2020.103970_bib8","doi-asserted-by":"crossref","DOI":"10.1177\/2329048X19829520","article-title":"AIMP1 mutation long-term follow-up, with decreased brain N-acetylaspartic acid and secondary mitochondrial abnormalities","volume":"6","author":"Khan","year":"2019","journal-title":"Child Neurol Open"},{"issue":"Pt 17","key":"10.1016\/j.ejmg.2020.103970_bib9","doi-asserted-by":"crossref","first-page":"3725","DOI":"10.1242\/jcs.01342","article-title":"Aminoacyl-tRNA synthetase complexes: beyond translation","volume":"117","author":"Lee","year":"2004","journal-title":"J. Cell Sci."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103970_bib10","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s00418-013-1101-1","article-title":"Review on intermediate filaments of the nervous system and their pathological alterations","volume":"140","author":"Lepinoux-Chambaud","year":"2013","journal-title":"Histochem. Cell Biol."},{"issue":"3","key":"10.1016\/j.ejmg.2020.103970_bib11","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1002\/ana.24883","article-title":"Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression","volume":"81","author":"Olson","year":"2017","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103970_bib12","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/0014-5793(96)01005-8","article-title":"The p18 component of the multisynthetase complex shares a protein motif with the beta and gamma subunits of eukaryotic elongation factor 1","volume":"395","author":"Quevillon","year":"1996","journal-title":"FEBS Lett."},{"issue":"51","key":"10.1016\/j.ejmg.2020.103970_bib13","doi-asserted-by":"crossref","first-page":"32573","DOI":"10.1074\/jbc.272.51.32573","article-title":"The p43 component of the mammalian multi-synthetase complex is likely to be the precursor of the endothelial monocyte-activating polypeptide II cytokine","volume":"272","author":"Quevillon","year":"1997","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103970_bib14","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1006\/jmbi.1998.2316","article-title":"Macromolecular assemblage of aminoacyl-tRNA synthetases: identification of protein-protein interactions and characterization of a core protein","volume":"285","author":"Quevillon","year":"1999","journal-title":"J. Mol. Biol."},{"issue":"3","key":"10.1016\/j.ejmg.2020.103970_bib15","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s00401-017-1739-1","article-title":"Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms","volume":"134","author":"van der Knaap","year":"2017","journal-title":"Acta Neuropathol."},{"issue":"37","key":"10.1016\/j.ejmg.2020.103970_bib16","doi-asserted-by":"crossref","first-page":"15944","DOI":"10.1073\/pnas.0901872106","article-title":"MSC p43 required for axonal development in motor neurons","volume":"106","author":"Zhu","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721220300768?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721220300768?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:49:38Z","timestamp":1761709778000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721220300768"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":16,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["S1769721220300768"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.103970","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS)","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.103970","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"103970"}}