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Articolul urmator |
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SM ISO690:2012 GASNAȘ (CATERENIUC), Daniela, CHELBAN, Viorica, GROPPA, Stanislav. Aplicabilitatea testării genetice de nouă generație în epilepsie prin prisma secvențierii întregului exom. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 332. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | ||||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | ||||||
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Pag. 332-332 | ||||||
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Background. Epilepsy affects around 1% of the general population. With strong genetic contributions >50% of cases still remain undiagnosed. Recently, novel genetic testing lead to massive gene discovery, epilepsy included. Objective of the study. Our review highlights the progress in the field of epilepsy genetics and discusses how the genetic architecture of common epilepsies is starting to be unraveled. Material and Methods. Relevant studies were searched using key-words: epilepsy genetics, next-generation sequencing (NGS), whole exome sequencing (WES) – in the PubMed and Google Scholar databases. A study was included if at least 2 of the key-words matched. Results. Since the 1995 finding of CHRNA4 mutation, more than 500 genes were estimated to play a role in epilepsy. To date, WES’s diagnostic rate varies from 12,5% in focal epilepsies to 33% in overall cohorts. The remaining undiagnosed forms are likely multifactorial. However, NGS introduces new challenges, yet to be resolved. Conclusion. Over the past decade, WES studies have increasingly been used to uncover the role of the coding genetic material in the human genome, being a prerequisite for personalized treatment approaches and reducing the epilepsy patient’s “diagnostic odyssey”. |
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Cuvinte-cheie genetics, epilepsy, whole exome sequencing (WES), genetica, epilepsie, secvențierea întregului exom (WES) |
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