{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:39Z","timestamp":1753869699693,"version":"3.41.2"},"reference-count":59,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T00:00:00Z","timestamp":1708646400000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Variants in the Aristaless\u2010related homeobox (<jats:italic>ARX<\/jats:italic>) gene lead to a variety of phenotypes, with intellectual disability being a steady feature. Other features can include severe epilepsy, spasticity, movement disorders, hydranencephaly, and ambiguous genitalia in males. X\u2010linked Ohtahara syndrome or Type 1 early infantile epileptic encephalopathy (EIEE1) is a severe early\u2010onset epileptic encephalopathy with arrested psychomotor development caused by hemizygous mutations in the <jats:italic>ARX<\/jats:italic> gene, which encodes a transcription factor in fundamental brain developmental processes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We presented a case report of a 2\u2010year\u2010old boy who exhibited symptoms such as microcephaly, seizures, and severe multifocal epileptic abnormalities, and genetic techniques such as autozygosity mapping, Sanger sequencing, and whole\u2010exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We confirmed that the patient had the NM_139058.3:c.84C&gt;A; p.(Cys28Ter) mutation in the <jats:italic>ARX<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The patient with EIEE1 had physical symptoms and hypsarrhythmia on electroencephalogram. Genetic testing identified a causative mutation in the <jats:italic>ARX<\/jats:italic> gene, emphasizing the role of genetic testing in EIEE diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2412","type":"journal-article","created":{"date-parts":[[2024,2,24]],"date-time":"2024-02-24T07:15:31Z","timestamp":1708758931000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Type 1 early infantile epileptic encephalopathy: A case report and literature review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3823-0798","authenticated-orcid":false,"given":"Erfan","family":"Zaker","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Shahid Sadoughi University of Medical Sciences  Yazd Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Negar","family":"Nouri","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Shahid Sadoughi University of Medical Sciences  Yazd Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3062-8267","authenticated-orcid":false,"given":"Mojtaba","family":"Movahedinia","sequence":"additional","affiliation":[{"name":"Department of Children Growth Disorder Research Center Shahid Sadoughi University of Medical Sciences  Yazd Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3627-9472","authenticated-orcid":false,"given":"Ali","family":"Dadbinpour","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine Shahid Sadoughi University of Medical Sciences  Yazd Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0535-1590","authenticated-orcid":false,"given":"Mohammad Yahya","family":"Vahidi\u00a0Mehrjardi","sequence":"additional","affiliation":[{"name":"Diabetes Research Center Shahid Sadoughi University of Medical Sciences  Yazd Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,23]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2009.03470.x"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep46227"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2016.03.007"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.15.3258"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12071051"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.06.002"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12034"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.981"},{"key":"e_1_2_11_10_1","unstructured":"Cai F. 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