Article
Genetic and epigenetic contributors and mimickers of phenotypic hypoxic-ischemic encephalopathy (HIE).
Seminars in perinatology - 1 Dec 2025
Mietzsch Ulrike, Law Janessa B, Thayyil Basel, Miller Danny E, Wood Thomas R, Natarajan Niranjana, Mohammad Khorshid
Abstract excerpt
Hypoxic-ischemic encephalopathy (HIE) remains one of the leading causes of neonatal morbidity and mortality despite advancement in care. Over 60 % of infants presenting with phenotypic HIE lack a clear identifiable acute sentinel event. Clinical genetic testing in neonates with suspected HIE has uncovered an increasing number of genetic conditions and epigenetic modifications that impair their ability to tolerate...
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