Cytogenomics and epileptology: a desired alliance

Since 2021, theoretical studies in the framework of a collaboration between researchers of Mental Health Research Center (and Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University) and Polenov Neurosurgical Institute, Almazov National Medical Research Centre have resulted in the formation of a consortium designated as “Cytogenomic epileptology”. Here, the work of the consortium is described; the essential problems, which are planned to be solved by our consortium members, are listed. More specifically, chromosomal abnormalities and copy number variants are insufficiently studied in epileptic disorders; these types of genetic pathology are excluded from current epilepsy classification; analyses of intraoperational (postoperational) samples are limited to searching gene mutations; systems genomics is rarely used for uncovering epilepsy pathogenesis. It is planned to invite additional consortium members according to selection criteria.

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