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SM ISO690:2012 GASNAȘ (CATERENIUC), Daniela, CHELBAN, Viorica, GROPPA, Stanislav. Understanding the genetic characteristics of moldovan multiplex epilepsy families using whole exome sequencing. In: Cercetarea în biomedicină și sănătate: calitate, excelență și performanță, Ed. 1, 20-22 octombrie 2021, Chişinău. Chișinău, Republica Moldova: 2021, p. 220. ISBN 978-9975-82-223-7 (PDF).. |
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Cercetarea în biomedicină și sănătate: calitate, excelență și performanță 2021 | ||||||
Conferința "Cercetarea în biomedicină și sănătate: calitate, excelență și performanță" 1, Chişinău, Moldova, 20-22 octombrie 2021 | ||||||
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Background. Although several theories have been proposed to explain the origin of epilepsy, its cause is still unknown in about half of cases. In most cases, the link between a gene and the condition is not yet clear and studying multiple affected members of a family is needed. Objective of the study. To estimate the genetic biomarkers of multiplex epilepsy families from the Republic of Moldova and their role in epileptogenesis. Material and Methods. Whole Exome Sequencing (WES) was performed on the first 11 epilepsy families from a newly started National Epilepsy Registry. It was followed by a descriptive analysis of the data. Results. Our National registry counts now 74 families including 186 members. WES results of the first 11 Moldovan multiplex epilepsy families revealed that the most prevalent epileptogenic variants are those involving the 1, 2, 3, 4, 7, 12, and 17 chromosomes. Top genes affected by candidate variants include AUTS2, ATXN1, KCNMA1, IRF2BPL, SUFU, CENPE, SACS, EDC3, RYR2, ANKRD11, PTPRD, CHL1, MYH1, CC2D2A, LIAS, TBCD and AARS. From the detected variants, almost 23 % were classified as of unknown significance (VUS), 20% were identified as deleterious and probably pathogenic by two known predictors (SIFT and Polyphen), and 39% are known as tolerated and benign. Conclusion. The preliminary results of our studies are truly revolutionary, as they represent an absolute novelty for the country and the eastern “genetically virgin” territories. |
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Cuvinte-cheie epilepsy genetics, Whole exome sequencing, multiplex epilepsy family, genetica epilepsiei, secvențierea întregului exom, familii multiplex |
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