ABSTRACT
Background/aim: To determine the prevalence of epilepsy, the type of clinical presentation and the electroencephalographic characteristics of epilepsy in small chromosomal changes in a population of patients with epilepsy in the Republic of North Macedonia.
Materials and methods: This retrospective observational study included 193 patients, of which 101 patients with epilepsy (SV = 4.28, SD = 3.68, min 0.04 years, max 14 years) separated into two groups, group A with epilepsy and detected Copy number variations (CNVs); and B1 group with epilepsy where no CNVs were detected. The remaining 92 patients are with detected CNVs and without epilepsy, group B2. For comparing the groups and evaluating the qualitative data, Pearson chisquare test and Fisher’s Exact Test were used to determine the degree of dependence between categorical variables with significance p <0.05, using STATA 12.0 software package.
Results: The correlation between epilepsy and CNVs as two dependent variables is statistically strong (Cramer’s V = - 0.5567) and significant Pr = 0.000. Pearson’s chi2 = 59.8215, Fishers exact = 0.000. The occurrence of epilepsy in the subjects is independent of the type of CNVs.
Conclusion: The expansion of genetic research in recent years has shown that a large part of epilepsy has a genetic basis. Determining the electroclinical features of epilepsy in relation to the occurrence of small chromosomal changes may, in the future, provide a more appropriate classification of epilepsies and key information in identifying the role of genes involved in the development of epilepsy.
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