Author/Editor | Kukec, Eva; Goričar, Katja; Dolžan, Vita; Rener-Primec, Zvonka | |
Title | HIF1A polymorphisms do not modify the risk of epilepsy nor cerebral palsy after neonatal hypoxic-ischemic encephalopathy | |
Type | članek | |
Vol. and No. | , št. Vol. 1757 | |
Publication year | 2021 | |
Volume | str. 1-7 | |
ISSN | 1872-6240 - Brain research | |
Language | eng | |
Abstract | Purpose: Hypoxic-ischemic encephalopathy (HIE) remains the major cause of cerebral palsy and epilepsy in developed countries. Hypoxia-inducible factor 1 alpha (HIF-1%) is the key mediator of oxygen homoeostasis. The aim of this study was to investigate whether hypoxia-inducible factor 1 subunit alpha (HIF1A) functional polymorphisms are associated with the risk of epilepsy, drug-resistant epilepsy, and cerebral palsy after neonatal HIE. Methods: The study included 139 healthy controls and 229 patients with epilepsy and/or cerebral palsy, of which 95 had perinatal HIE. Genomic DNA isolated from buccal swabs or peripheral blood were genotyped for HIF1A rs11549465 and rs11549467 using PCR based methods. Results: The investigated HIF1A polymorphisms did not influence the risk of epilepsy and its drug-resistance nor cerebral palsy after neonatal HIE (all p > 0.05). Clinical characteristics of patients were significantly associated with neurological deficits after HIE. Conclusion: This study found no statistically significant association of HIF1A rs11549465 and rs11549467 with the development of epilepsy and its drug-resistance, as well as cerebral palsy, after neonatal HIE. | |
Keywords | drug-resistant epilepsy hypoxic-ischemic encephalopathy child epilepsija, odporna na zdravila hipoksično-ishemična encefalopatija otrok |