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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies

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Author(s):
Garcia-Rosa, Sheila [1] ; Brenha, Bianca de Freitas [2] ; da Rocha, Vinicius Felipe [1] ; Goulart, Ernesto [3] ; Silva Araujo, Bruno Henrique [1]
Total Authors: 5
Affiliation:
[1] Ctr Res Energy & Mat CNPEM, Brazilian Biosci Natl Lab LNBio, Rua Giuseppe Maximo Scolfaro, 10000, Cidade Univ, BR-13083970 Campinas, SP - Brazil
[2] Univ Estadual Campinas, Inst Biol, Dept Biochem & Tissue Biol, Lab Embryon Genet Regulat, Campinas, SP - Brazil
[3] Univ Sao Paulo, Human Genome & Stem Cell Res Ctr HUGCEL, Inst Biosci, Dept Genet & Evolutionary Biol, Sao Paulo, SP - Brazil
Total Affiliations: 3
Document type: Review article
Source: Current Neuropharmacology; v. 19, n. 6, p. 813-831, 2021.
Web of Science Citations: 0
Abstract

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. (AU)

FAPESP's process: 19/18469-1 - Development of universal hepatic organoids produced from IPS cells
Grantee:Ernesto da Silveira Goulart Guimarães
Support Opportunities: Scholarships in Brazil - Post-Doctoral