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Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies

Epilepsy is the most common chronic neurologic disorder in the world, affecting 1-2% of the population. Besides, 30% of epilepsy patients are drug-resistant. Genomic mutations seem to play a key role in its etiology and knowledge of strong effect mutations in protein structures might improve predict...

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Autores principales: Garcia-Rosa, Sheila, de Freitas Brenha, Bianca, Felipe da Rocha, Vinicius, Goulart, Ernesto, Araujo, Bruno Henrique Silva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686309/
https://www.ncbi.nlm.nih.gov/pubmed/32933463
http://dx.doi.org/10.2174/1570159X18666200915151909
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author Garcia-Rosa, Sheila
de Freitas Brenha, Bianca
Felipe da Rocha, Vinicius
Goulart, Ernesto
Araujo, Bruno Henrique Silva
author_facet Garcia-Rosa, Sheila
de Freitas Brenha, Bianca
Felipe da Rocha, Vinicius
Goulart, Ernesto
Araujo, Bruno Henrique Silva
author_sort Garcia-Rosa, Sheila
collection PubMed
description Epilepsy is the most common chronic neurologic disorder in the world, affecting 1-2% of the population. Besides, 30% of epilepsy patients are drug-resistant. Genomic mutations seem to play a key role in its etiology and knowledge of strong effect mutations in protein structures might improve prediction and the development of efficacious drugs to treat epilepsy. Several genetic association studies have been undertaken to examine the effect of a range of candidate genes for resistance. Although, few studies have explored the effect of the mutations into protein structure and biophysics in the epilepsy field. Much work remains to be done, but the plans made for exciting developments will hold therapeutic potential for patients with drug-resistance. In summary, we provide a critical review of the perspectives for the development of individualized medicine for epilepsy based on genetic polymorphisms/mutations in light of core elements such as transcriptomics, structural biology, disease model, pharmacogenomics and pharmacokinetics in a manner to improve the success of trial designs of antiepileptic drugs.
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spelling pubmed-86863092022-01-13 Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies Garcia-Rosa, Sheila de Freitas Brenha, Bianca Felipe da Rocha, Vinicius Goulart, Ernesto Araujo, Bruno Henrique Silva Curr Neuropharmacol Article Epilepsy is the most common chronic neurologic disorder in the world, affecting 1-2% of the population. Besides, 30% of epilepsy patients are drug-resistant. Genomic mutations seem to play a key role in its etiology and knowledge of strong effect mutations in protein structures might improve prediction and the development of efficacious drugs to treat epilepsy. Several genetic association studies have been undertaken to examine the effect of a range of candidate genes for resistance. Although, few studies have explored the effect of the mutations into protein structure and biophysics in the epilepsy field. Much work remains to be done, but the plans made for exciting developments will hold therapeutic potential for patients with drug-resistance. In summary, we provide a critical review of the perspectives for the development of individualized medicine for epilepsy based on genetic polymorphisms/mutations in light of core elements such as transcriptomics, structural biology, disease model, pharmacogenomics and pharmacokinetics in a manner to improve the success of trial designs of antiepileptic drugs. Bentham Science Publishers 2021-05-27 2021-05-27 /pmc/articles/PMC8686309/ /pubmed/32933463 http://dx.doi.org/10.2174/1570159X18666200915151909 Text en © 2021 Bentham Science Publishers https://creativecommons.org/licenses/by-nc/4.0/ This is an open access article licensed under the terms of the Creative Commons Attribution-Non-Commercial 4.0 International Public License (CC BY-NC 4.0) (https://creativecommons.org/licenses/by-nc/4.0/legalcode), which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
spellingShingle Article
Garcia-Rosa, Sheila
de Freitas Brenha, Bianca
Felipe da Rocha, Vinicius
Goulart, Ernesto
Araujo, Bruno Henrique Silva
Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies
title Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies
title_full Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies
title_fullStr Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies
title_full_unstemmed Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies
title_short Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies
title_sort personalized medicine using cutting edge technologies for genetic epilepsies
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686309/
https://www.ncbi.nlm.nih.gov/pubmed/32933463
http://dx.doi.org/10.2174/1570159X18666200915151909
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