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![]() CATERENIUC, Daniela, GROPPA, Stanislav. Genetic testing and epigenetic markers in epilepsy: emerging instruments for personalized medicine. In: International Journal of Medical Dentistry, 2020, vol. 24, p. 292. ISSN 2066-6063. |
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International Journal of Medical Dentistry | ||||||
Volumul 24 / 2020 / ISSN 2066-6063 /ISSNe 2066-6063 | ||||||
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Pag. 292-292 | ||||||
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Globally, epilepsy of unknown etiology ranks 5thplace among neurological diseases, after stroke, migraine, dementia and meningitis. Of these patients - 4% to 78% have genetic variants with probable or definitive etiological significance. Recently, epigenetic mechanisms have been linked to epilepsy and cognitive function. Clinical features often lead to the choice of a particular genetic test or testing strategies, but for many patients - they are not suggestive of a specific gene or set of genes. Currently, whole exome sequencing and genetic panels are considered the most cost-effective genetic tests in epilepsy. At the same time, the use of human tissues and animal models has shown that epigenetic mechanisms are dynamically involved in the evolution of epilepsy. Despite recent molecular advances in epilepsy, studies on larger samples should target genes as well as epigenetic markers involved in epilepsy. |
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Cuvinte-cheie epilepsy, genetic testing, epigenetic markers |
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