Genomic epileptology: from molecular diagnosis to science-based therapy and rehabilitation
Abstract
Achievements in medical genomics have allowed to propose conceptually new approaches towards understanding mechanisms for brain diseases. The applications of genome medicine technologies provide new opportunities for identification of genetic causes of epilepsy. Uncovering molecular and cellular processes leading to epileptic disorders has underlain a new biomedical direction, genomic epileptology. Currently, genomic epileptology is an actual and promising area of molecular medicine. Discoveries in this area would be useful for developing science-based therapy and rehabilitation of this devastating disease.
Keywords
Supporting agencies: Studies of genomic variations and instability in the authors’ laboratories were supported by the State Assignment of the Ministry of Science and Higher Education of Russia No. AAAA-A19‑119040490101‑6 and the State Assignment of the Ministry of Health of Russia No. 121031000238–1.
About the Authors
I. Y. Iourov
Mental Health Research Center; Academician Y. E . Veltishchev Research Clinical Institute of Pediatrics, Pirogov Russian National Medical University; Russian Medical Academy of Continuous Postgraduate Education
Russian Federation
Russian Federation
Moscow
S. G. Vorsanova
Mental Health Research Center; Academician Y. E . Veltishchev Research Clinical Institute of Pediatrics, Pirogov Russian National Medical University
Russian Federation
Russian Federation
Moscow
Y. B. Yurov
Mental Health Research Center; Academician Y. E . Veltishchev Research Clinical Institute of Pediatrics, Pirogov Russian National Medical University
Russian Federation
Russian Federation
Moscow
References
1. Belousova E . D . G enetics of Epilepsy: What for and how to examine children with epilepsy. Neurology, Neuropsychiatry, Psychosomatics. 2014;6(1S):4–8. (In R uss.).] https://doi.org/10.14412/2074–2711–2014–1S‑4–8
2. Y e Z., McQuillan L., Poduri A., Green T. E ., Matsumoto N., Mefford H. C., Scheffer I. E ., Berkovic S. F., Hildebrand M . S. Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. Epilepsy Res. 2019; 155:106161. https://doi.org/10.1016/j.eplepsyres.2019.106161
3. Iourov I. Y ., Vorsanova S. G ., Kurinnaia O . S., Zelenova M . A., Vasin K. S., Yurov Y . B. Causes and consequences of genome instability in psychiatric and neurodegenerative dieases. Molecular biology. 2021;55(1):42–53. (In R uss.).] https://doi.org/10.31857/S 0026898421010158
4. Iourov I.Y., Vorsanova S. G ., Korostelev S. A., Zelenova M . A., Yurov Y . B. Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy. Mol Cytogenet. 2015;8:77. https://doi.org/10.1186/s13039–015–0182-z
5. Iourov I.Y., Vorsanova S. G ., Yurov Y . B., Zelenova M . A., Kurinnaia O . S., Vasin K. S., Kutsev S. I. The cytogenomic «theory of everything»: chromohelkosis may underlie chromosomal instability and mosaicism in disease and aging. Int J Mol Sci. 2020;21(21):8328. https://doi.org/10.3390/ijms21218328
6. Benson M. Clinical implications of omics and systems medicine: focus on predictive and individualized treatment. J. Intern. Med. 2016;279(3):229–240. https://doi.org/10.1111/joim.12412
7. Iourov I.Y., Vorsanova S. G ., Yurov Y . B. Systems cytogenomics: are we ready yet? Curr Genomics. 2021;22(2):75–78. https://doi.org/10.2174/1389202922666210219112419
8. Iourov I.Y., Vorsanova S. G ., Voinova V . Y ., Yurov Y . B. 3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances. Mol Cytogenet. 2015;8:82. https://doi.org/10.1186/s13039‑015‑0185‑9
9. R osenthal S.B., Willsey H. R ., Xu Y ., Mei Y., Dea J., Wang S., Curtis C., Sempou E., Khokha M . K., Chi N. C., Willsey A. J ., Fisch K. M ., Ideker T. A convergent molecular network underlying autism and congenital heart disease. Cell Syst. 2021;12(11):1094–1107.e6. https://doi.org/10.1016/j.cels.2021.07.009
10. Zheng F., Kelly M . R ., Ramms D . J ., Heintschel M . L ., Tao K., Tutuncuoglu B., Lee J . J ., Ono K., Foussard H., Chen M., Herrington K. A., Silva E., Liu S. N., Chen J., Churas C., Wilson N., Kratz A., Pillich R . T., Patel D . N., Park J., Kuenzi B., Yu M . K., Licon K., Pratt D., Kreisberg J . F., Kim M., Swaney D . L ., Nan X ., Fraley S. I., Gutkind J . S., Krogan N. J ., Ideker T. Interpretation of cancer mutations using a multiscale map of protein systems. Science. 2021;374(6563): eabf3067. https://doi.org/10.1126/science.abf3067
Review
For citations:
Iourov I.Y., Vorsanova S.G., Yurov Y.B. Genomic epileptology: from molecular diagnosis to science-based therapy and rehabilitation. Russian Neurosurgical Journal named after Professor A. L. Polenov. 2022;14(1-2):133-135. (In Russ.)
Views:
30
Email this article 