{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T02:11:51Z","timestamp":1784945511665,"version":"3.55.0"},"reference-count":49,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T00:00:00Z","timestamp":1705536000000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The genetic background of neonatal encephalopathy (NE) is complicated and early diagnosis is beneficial to optimizing therapeutic strategy for patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>NE Patients with unclear etiology received regular clinical tests including ammonia test, metabolic screening test, amplitude\u2010integrated electroencephalographic (aEEG) monitoring, brain Magnetic Resonance Imaging (MRI) scanning, and genetic test. The protein structure change was predicted using Dynamut2 and RoseTTAFold.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>15 out of a total of 113 NE Patients were detected with newly reported pathogenic variants. In this sub\u2010cohort, (1) seizure was the primary initial symptoms; (2) four patients had abnormal metabolic screening results, and two of them were also diagnosed with excessive blood ammonia concentration; (3) the brain MRI results were irregular in three infants and the brain waves were of moderate\u2013severe abnormality in about a half of the patients. The novel pathogenic variants discovered in this study belonged to 12 genes, and seven of them were predicted to introduce a premature translation termination. In\u2010silicon predictions showed that four variants were destructive to the protein structure of KCNQ2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study expands the mutation spectrum of genes associated with NE and introduces new evidence for molecular diagnosis in this newborn illness.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2354","type":"journal-article","created":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T12:07:30Z","timestamp":1705579650000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Newly discovered variants in unexplained neonatal encephalopathy"],"prefix":"10.1002","volume":"12","author":[{"given":"Rong","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neonatology Hunan Children's Hospital  Changsha Hunan 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