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Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies.
Garcia-Rosa, Sheila; de Freitas Brenha, Bianca; da Rocha, Vinicius Felipe; Goulart, Ernesto; Silva Araujo, Bruno Henrique.
Afiliação
  • Garcia-Rosa S; Brazilian Biosciences National Laboratory (LNBio), Center for Research in Energy and Material (CNPEM), Campinas, SP, Brazil.
  • de Freitas Brenha B; Laboratory of Embryonic Genetic Regulation, Department of Biochemistry and Tissue Biology, Institute of Biology, University of Campinas, Campinas, SP, Brazil.
  • da Rocha VF; Brazilian Biosciences National Laboratory (LNBio), Center for Research in Energy and Material (CNPEM), Campinas, SP, Brazil.
  • Goulart E; Human Genome and Stem-Cell Research Center (HUG-CEL), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, SP, Brazil.
  • Silva Araujo BH; Brazilian Biosciences National Laboratory (LNBio), Center for Research in Energy and Material (CNPEM), Campinas, SP, Brazil.
Curr Neuropharmacol ; 19(6): 813-831, 2021.
Article em En | MEDLINE | ID: mdl-32933463
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Medicina de Precisão Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Medicina de Precisão Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article