Candidate Genes Associated with the Course of Epilepsy in Cerebral Palsy: Remission or Refractoriness

Résumé fourni par la source

Epilepsy often accompanies congenital cerebral palsy (CP). Canalopathies can be the cause of congenital epilepsy. The aim of the study is to determine the influence of various determinants on the course of epilepsy. Materials and methods: The results of clinical and genetic analysis of 136 cases of cerebral palsy (CP) with epilepsy are presented. The patients were divided into groups according to the syndromes according to the classification of CP (Panteliadis and R. Korinthenberg, 2005). Epileptic syndromes were divided into three groups: focal childhood epilepsy with structural brain changes and benign epileptiform discharges (BEDC) in EEG - 41 children (30.1%), structural focal epilepsy - 37 children (27.2%), epileptic encephalopathies 58 children (42.7%). Pathogenic variants in genes were confirmed by next generation sequencing (NGS) Sanger methods of venous blood. Results. Remission was more difficult to achieve in patients with determinants of regulation of general aspects of cellular metabolism, mitochondrial function, cytoskeleton formation and function, and transport across the outer membrane. The need for polypharmacy was in the groups that regulate the function of mitochondria, the formation and functioning of the cytoskeleton, and the regulation of membrane excitability. Conclusion. Determinant analysis provides a better understanding of the mechanisms of patient responsiveness to anticonvulsant therapy. The determinant of mitochondrial function most significantly affects its effectiveness. Probably, the violation of energy metabolism in the cell neutralizes the stabilization of the neuronal membrane under the influence of anticonvulsants. The determinant of the formation and functioning of the cytoskeleton, according to our preliminary data, is associated with the formation of malformations of the brain. In this case, the refractoriness of epilepsy can be secondary and determined by the severity of structural changes in the brain.

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