{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:20:25Z","timestamp":1787026825134,"version":"build-2736575974"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T00:00:00Z","timestamp":1697673600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>\n                    Infantile epileptic spasms syndrome (IESS) is one of the most common epileptic encephalopathies of infancy, with typical clinical features defined by a triad of epileptic spasms, hypsarrhythmia, and developmental delay. Genetic factors are important causes of IESS. The\n                    <jats:italic>SETD1A<\/jats:italic>\n                    (SET Domain Containing 1A) gene encodes a histone lysine methyltransferase that activates gene transcription through histone H3 lysine K4 methylation. Mutations in the\n                    <jats:italic>SETD1A<\/jats:italic>\n                    gene have been associated with schizophrenia, and some have been reported to cause seizures. Herein, we report a case of IESS caused by a\n                    <jats:italic>SETD1A<\/jats:italic>\n                    gene mutation. Video electroencephalography showed hypsarrhythmia. No specific findings were obtained after brain MRI and metabolic work-up. The seizures disappeared after treatment with adrenocorticotropic hormone, vitamin B6, and valproic acid during hospitalization. Genetic testing revealed that the child had a variant (NM_014712.3:c.3005_3,006 delAG, p.Glu1002Glyfs*20) in exon 12 of the\n                    <jats:italic>SETD1A<\/jats:italic>\n                    gene, representing a\n                    <jats:italic>de novo<\/jats:italic>\n                    mutation. There have been no previous reports on the\n                    <jats:italic>SETD1A<\/jats:italic>\n                    gene causing infantile spasms. We also summarize the existing literature on\n                    <jats:italic>SETD1A<\/jats:italic>\n                    gene\u2013related epilepsy to provide a reference for clinical diagnosis and treatment.\n                  <\/jats:p>","DOI":"10.3389\/fneur.2023.1278035","type":"journal-article","created":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T02:47:50Z","timestamp":1697683670000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome"],"prefix":"10.3389","volume":"14","author":[{"given":"Mingping","family":"Lan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanjuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sixiu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenguang","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,10,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"ILAE 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intellectual disability and autism spectrum disorder","volume":"13","author":"Koemans","year":"2017","journal-title":"PLoS Genet"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1111\/j.1469-8137.2012.04143.x","article-title":"Complex evolutionary history and diverse domain organization of SET proteins suggest divergent regulatory interactions","volume":"195","author":"Zhang","year":"2012","journal-title":"New Phytol"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"733","DOI":"10.4161\/cc.10.5.14958","article-title":"Cell cycle control by a methylation-phosphorylation switch","volume":"10","author":"Carr","year":"2011","journal-title":"Cell Cycle"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.molcel.2018.05.018","article-title":"Histone methylation by SETD1A protects nascent DNA through the nucleosome chaperone activity of FANCD2","volume":"71","author":"Higgs","year":"2018","journal-title":"Mol Cell"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1016\/j.neuron.2014.04.043","article-title":"Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene","volume":"82","author":"Takata","year":"2014","journal-title":"Neuron"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1111\/pcn.13310","article-title":"De novo variant of SETD1A causes neurodevelopmental disorder with dysmorphic facies: a case report","volume":"76","author":"Zhang","year":"2022","journal-title":"Psychiatry Clin Neurosci"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"ddad079","DOI":"10.1093\/hmg\/ddad079","article-title":"Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders","author":"Lee","year":"2023","journal-title":"Hum Mol Genet"}],"container-title":["Frontiers in 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