ArticleJournal of clinical neurology (Seoul, Korea)2024
Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.
Article in Journal of clinical neurology (Seoul, Korea), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Article
- Neonatal encephalopathy due to suspected hypoxic-ischaemic encephalopathy.World journal of pediatrics : WJP · 2025Article
- Review of Precision Medicine and Diagnosis of Neonatal Illness.Diagnostics (Basel, Switzerland) · 2025Review
- Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort.Frontiers in neurology · 2025Article
- Structural brain MRI abnormalities inFrontiers in neurology · 2025Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
background and purposeNeonatal encephalopathy (NE) is a neurological syndrome that presents with severe neurological impairments and complications. Hypoxic-ischemic encephalopathy is a major contributor to poor outcomes, being responsible for 50%-80% of admissions to neonatal intensive care units. However, some cases of NE accompanied by hypoxic brain damage cannot be solely attributed to hypoxia-ischemia. We aimed to identify diverse pathogenic genetic variations that may be associated with cases of NE accompanied by hypoxic brain damage rather than hypoxia-ischemia.
methodsWe collected data from 34 patients diagnosed with NE accompanied by hypoxic brain damage over a 10-year period. Patients with the following specific conditions were excluded: 1) premature birth (<32 weeks), 2) no history of hypoxic events, 3) related anomalies, 4) neonatal infections, 5) antenatal or perinatal obstetrical complications, 6) severe hypoxia due to other medical conditions, and 7) early death (within 1 week). A comprehensive review of clinical and radiological features was conducted.
resultsA genetic diagnosis was made in 11 (32.4%) patients, with pathogenic variants being identified in the following 9 genes:
conclusionsGenetic analyses may help in diagnosing the underlying etiology of NE and concurrent hypoxic brain damage, irrespective of the initial clinical features.
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