Background: Febrile seizures (FS) are a benign, age-dependent, genetically determined state, in which the child's brain is susceptible to epileptic seizures occurring in response to hyperthermia. We assessed whether polymorphisms of IL1B and SCN1A genes, encoding the proinflammatory cytokine IL1B and SCN1A, respectively, could help to predict FS development and find a new way to treat FS.Methods: We examined 121 children with FS and 30 children with hyperthermia syndrome (HTS) aged from 3 to 36 months. SNPs rs1143634 and rs16944 of IL1B gene, and rs3812718 and rs16851603 of SCN1A gene were determined by quantitative realtime PCR.Results: The analysis for rs1143634 revealed an association between the CC genotype and increased risk of FS development (OR 6.56; P=0.0008) against the background of acute respiratory viral infection. The same result was obtained for rs16944 (OR 3.13; P=0.04) and an association of two homozygous genotypes CC/CC. For rs3812718, the carriage of heterozygous genotype CT demonstrated a direct relationship with FS development (OR 44.95; P=0.000).Conclusion: Children with high FS risk need preventive treatment and joint observation of a pediatrician, pediatric infectionist, and a neurologist-epileptologist. (International Journal of Biomedicine. 2017;7(2):96-103.)
This review provides information on the definition of febrile seizures in children, presents modern data on the dependence of the genetic predisposition to IL-Ιβ gene mutations and development of febrile seizures in children. Purpose of the review is analysis of available publications devoted to the study of the role of IL-Ιβ polymorphism in the development of febrile seizures in children. The literature search included available full-text publications in Russian and English databases. It was found that febrile seizures are characteristic for children from 6 months to 3 years. The causes of seizures still serve as a subject of debate. Family history of febrile seizures in the development is most important risk factor. Positive family history can be detected in 25-40% of patients. Components of the immune response may play a role in the pathogenesis of febrile seizures. One factor is a pro-inflammatory cytokine gene polymorphism of interleukin-ΐβ (IL-Ιβ). The analysis of the literature demonstrates the need for a detailed study of the genetic causes of febrile seizures in children, especially in patients with a positive family history.
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