Avtor/Urednik		Kukec, Eva; Goričar, Katja; Dolžan, Vita; Rener-Primec, Zvonka
Naslov		HIF1A polymorphisms do not modify the risk of epilepsy nor cerebral palsy after neonatal hypoxic-ischemic encephalopathy
Tip		članek
Vol. in št.		, št. Vol. 1757
Leto izdaje		2021
Obseg		str. 1-7
ISSN		1872-6240 - Brain research
Jezik		eng
Abstrakt		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.
Proste vsebinske oznake		drug-resistant epilepsy hypoxic-ischemic encephalopathy child epilepsija, odporna na zdravila hipoksično-ishemična encefalopatija otrok