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  • Author: Anamaria Todoran Butila x
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Todoran Butilă Anamaria, Sin Anca, Micheu Cristian, Csep Katalin, Voidăzan Septimiu and Racos Szabo Elisabeta

Abstract

Objectives: the aim of the study was to identify predictive risk factors of the development of epilepsy in patients with cerebral palsy (CP).

Materials and methods: We performed a bidirectional study in wich 177 patients diagnosed with CP with and without epilepsy have been selected for characteristics and risk factor comparison. We analyzed the history related to pregnancy and birth, gestational age, birth weight, fetal distress, the presence of neonatal convulsion, age of onset for the epilepsy, associated types of seizures, the response to anticonvulsant therapy and brain changes identified by Computer tomography and Magnetic resonance imaging examination.

Results: epilepsy was found in 91 (51.4%) patients, most frequently in quadriplegic form (76.2% vs 23.8%), OR:3.04, 95% CI:1.42-6.52, p-0.005. In this group, the most common were partial seizures (34.4%), epileptic encephalopathy like Lennox Gastaut and West type (62.5%), and also neonatal seizures. Eighty percent of on-term infants with neonatal seizures later developed epilepsy. Factors like fetal distress, low birth weight, cytomegalovirus infection, history of pathological pregnancy were associated with an increased risk of developing epilepsy. Imaging change, especially cerebral atrophy had the highest frequency (37.5% vs 16%) in pacients with epilepsy. 28 (30.8%) patients had resistance epilepsy, 13 (46.4%) of them having quadriplegia. Early onset of epilepsy constitutes a sign of severity of epileptic forms (OR:3.09, 95% CI:1.187-8.061, p-0.01).

Conclusions: The data are consistent with those in literature but is necessary following this study to clarify and support the assumption on preddictive factors and prognosis of epilepsy in this population.

Open access

Anamaria Todoran Butila, Anca Sin, Elisabeta Racoş Szabo, Cristian Micheu, Valeriu G. Moldovan, Septimiu Voidazan and Claudia Bănescu

Abstract

Background: P-glycoprotein (P-gp), a drug efflux transporter, encoded by the gene MDR1 ABCB1 multidrug resistant, reduces the penetration through the brain by the AEDs. Overexpression of Pgp in blood-brain barrier in epileptic patients play an important rol in pharmacoresistance. The aim of this study was to evaluate a possible association between C1236T and G2677T ABCB1 gene polymorphisms and drug-resistant epilepsy in Romanian children.

Material and Methods: A total of 194 children with epilepsy hospitalized in the Paediatric Neurology and Psychiatry Clinic in Tirgu Mureş and 153 healthy controls were included in this study. Of the initial group, those cases that met the criteria for idiopathic and cryptogenic epilepsies (114 cases) were stratified in 31drug-resistant and 83 drug-responsive patients. The C1236T and G2677T genetic polymorphisms were assessed by RFLP-PCR (polymerase chain-restriction fragment length polymorphism) followed by gel electrophoresis.

Results: Molecular analysis of ABCB1 gene polymorphism identified 1236CT heterozygous to be highly represented in drug-responsive group, with a p value of 0.001. Also, in idiopathic epilepsy subgroups (with partial and generalized type of seizures), in case of 1236TT and CT genotypes we found highly significant differences between drug-responsive patients and those resistant to antiepileptic treatment (p-0.003 and p-0.002 respectively). No association between G2677T polymorphism and total epilepsy was found.

Conclusions: Our results show that MDR1 C1236T and G2677T polymorphisms are not associated with drug-resistant epilepsy in the study population, but 1236TT and 1236CT genotype variants and also 2677TT were found to be significantly associated with drug-responsive idiopathic epilepsy.