Molecular cytogenetic and cytogenomic studies have made a contribution to genetics of epilepsy. However, current genomic research of this devastative condition is generally focused on the molecular genetic aspects (i.e. gene hunting, detecting mutations in known epilepsy-associated genes, searching monogenic causes of epilepsy). Nonetheless, chromosomal abnormalities and copy number variants (CNVs) represent an important part of genetic defects causing epilepsy. Moreover, somatic chromosomal mosaicism and genome/chromosome instability seem to be a possible mechanism for a wide spectrum of epileptic conditions. This idea becomes even more attracting taking into account the potential of molecular neurocytogenetic (neurocytogenomic) studies of the epileptic brain. Unfortunately, analyses of chromosome numbers and structure in the affected brain or epileptogenic brain foci are rarely performed. Therefore, one may conclude that cytogenomic area of genomic epileptology is poorly researched. Accordingly, molecular cytogenetic and cytogenomic studies of the clinical cohorts and molecular neurocytogenetic analyses of the epileptic brain appear to be required. Here, we have performed a theoretical analysis to define the targets of the aforementioned studies and to highlight future directions for molecular cytogenetic and cytogenomic research of epileptic disorders in the widest sense. To succeed, we have formed a consortium, which is planned to perform at least a part of suggested research. Taking into account the nature of the communication, “cytogenomic epileptology” has been introduced to cover the research efforts in this field of medical genomics and epileptology. Additionally, initial results of studying cytogenomic variations in the Russian neurodevelopmental cohort are reviewed with special attention to epilepsy. In total, we have concluded that (i) epilepsy-associated cytogenomic variations require more profound research; (ii) ontological analyses of epilepsy genes affected by chromosomal rearrangements and/or CNVs with unraveling pathways implicating epilepsy-associated genes are beneficial for epileptology; (iii) molecular neurocytogenetic (neurocytogenomic) analysis of postoperative samples are warranted in patients suffering from epileptic disorders.

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Introduction. Meningiomas are the second most common central nervous system (CNS) tumors in adults. most meningiomas are benign tumors. Anaplastic and atypical meningiomas account for 25% and have a high recurrence rate even after radical tumor resection and radiotherapy. The prognosis of patients with anaplastic meningiomas remains disappointing; most of them die within the first 2 to 5 years after surgery. Purpose: to discuss the challenges in diagnosis and treatment of recurrent meningiomas, to identify the causes of tumor progression, and to assess the clinical features and radiographic findings as well as specific pathomorphological and molecular genetic characteristics. material and methods. We searched for publications in the Pubmed, EMBASE, Cohrane Library and eLibrary databases published between January 2000 and January 2019 on the issue of recurrent intracranial meningiomas, in particular atypical and anaplastic meningiomas. Results. The review systematizes data on the prognostic factors for survival, relapse-free period, and disease progression. particular attention was paid to the radical resection of the tumor and the assessment of the grade of anaplasia. The current data on radiotherapy and drug therapy were presented.  the controversial issues of approaches to the assessment of morphological prognostic criteria were discussed. The current knowledge on the most common genetic mutations in meningiomas, the prospects for their study and use for targeted therapy were presented. Conclusion. The management of meningioma still presents some unresolved issues.  There are no optimal standards for diagnosis and treatment of patients with meningiomas that would take into account biological characteristics, including growth characteristics and molecular genetic profile. There are no clear prognostic criteria for recurrence and continuity in further management after surgical treatment, which affects the mortality rate and quality of life in this category of patients. New fundamental data that will determine a different strategy in the treatment of intracranial meningiomas are needed.